SNP Links for Protein (Select 10864037) - SNP

Select item 14874821871.

rs1487482187 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:44139828 (GRCh38)
7:44179427 (GRCh37)
Canonical SPDI:: NC_000007.14:44139827:A:G
Gene:: MYL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.44139828A>G, NC_000007.13:g.44179427A>G, XM_005249817.5:c.400T>C, XM_005249817.4:c.400T>C, XM_005249817.3:c.400T>C, XM_005249817.2:c.400T>C, XM_005249817.1:c.400T>C, XM_011515463.3:c.400T>C, XM_011515463.2:c.400T>C, XM_011515463.1:c.400T>C, XM_011515464.3:c.331T>C, XM_011515464.2:c.331T>C, XM_011515464.1:c.331T>C, NM_021223.3:c.331T>C, NM_021223.2:c.331T>C, XM_024446851.2:c.400T>C, XM_024446851.1:c.400T>C, XM_017012478.2:c.331T>C, XM_017012478.1:c.331T>C, XP_005249874.1:p.Phe134Leu, XP_011513765.1:p.Phe134Leu, XP_011513766.1:p.Phe111Leu, NP_067046.1:p.Phe111Leu, XP_024302619.1:p.Phe134Leu, XP_016867967.1:p.Phe111Leu

Select item 14853503672.

rs1485350367 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:44140733 (GRCh38)
7:44180332 (GRCh37)
Canonical SPDI:: NC_000007.14:44140732:T:C
Gene:: MYL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.44140733T>C, NC_000007.13:g.44180332T>C, XM_005249817.5:c.241A>G, XM_005249817.4:c.241A>G, XM_005249817.3:c.241A>G, XM_005249817.2:c.241A>G, XM_005249817.1:c.241A>G, XM_011515463.3:c.241A>G, XM_011515463.2:c.241A>G, XM_011515463.1:c.241A>G, XM_011515464.3:c.172A>G, XM_011515464.2:c.172A>G, XM_011515464.1:c.172A>G, NM_021223.3:c.172A>G, NM_021223.2:c.172A>G, XM_024446851.2:c.241A>G, XM_024446851.1:c.241A>G, XM_017012478.2:c.172A>G, XM_017012478.1:c.172A>G, XP_005249874.1:p.Arg81Gly, XP_011513765.1:p.Arg81Gly, XP_011513766.1:p.Arg58Gly, NP_067046.1:p.Arg58Gly, XP_024302619.1:p.Arg81Gly, XP_016867967.1:p.Arg58Gly

Select item 14830040663.

rs1483004066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:44140387 (GRCh38)
7:44179986 (GRCh37)
Canonical SPDI:: NC_000007.14:44140386:C:A,NC_000007.14:44140386:C:T
Gene:: MYL7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.44140387C>A, NC_000007.14:g.44140387C>T, NC_000007.13:g.44179986C>A, NC_000007.13:g.44179986C>T, XM_005249817.5:c.303G>T, XM_005249817.5:c.303G>A, XM_005249817.4:c.303G>T, XM_005249817.4:c.303G>A, XM_005249817.3:c.303G>T, XM_005249817.3:c.303G>A, XM_005249817.2:c.303G>T, XM_005249817.2:c.303G>A, XM_005249817.1:c.303G>T, XM_005249817.1:c.303G>A, XM_011515463.3:c.303G>T, XM_011515463.3:c.303G>A, XM_011515463.2:c.303G>T, XM_011515463.2:c.303G>A, XM_011515463.1:c.303G>T, XM_011515463.1:c.303G>A, XM_011515464.3:c.234G>T, XM_011515464.3:c.234G>A, XM_011515464.2:c.234G>T, XM_011515464.2:c.234G>A, XM_011515464.1:c.234G>T, XM_011515464.1:c.234G>A, NM_021223.3:c.234G>T, NM_021223.3:c.234G>A, NM_021223.2:c.234G>T, NM_021223.2:c.234G>A, XM_024446851.2:c.303G>T, XM_024446851.2:c.303G>A, XM_024446851.1:c.303G>T, XM_024446851.1:c.303G>A, XM_017012478.2:c.234G>T, XM_017012478.2:c.234G>A, XM_017012478.1:c.234G>T, XM_017012478.1:c.234G>A

Select item 14725320014.

rs1472532001 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:44140381 (GRCh38)
7:44179980 (GRCh37)
Canonical SPDI:: NC_000007.14:44140380:C:A
Gene:: MYL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.44140381C>A, NC_000007.13:g.44179980C>A, XM_005249817.5:c.309G>T, XM_005249817.4:c.309G>T, XM_005249817.3:c.309G>T, XM_005249817.2:c.309G>T, XM_005249817.1:c.309G>T, XM_011515463.3:c.309G>T, XM_011515463.2:c.309G>T, XM_011515463.1:c.309G>T, XM_011515464.3:c.240G>T, XM_011515464.2:c.240G>T, XM_011515464.1:c.240G>T, NM_021223.3:c.240G>T, NM_021223.2:c.240G>T, XM_024446851.2:c.309G>T, XM_024446851.1:c.309G>T, XM_017012478.2:c.240G>T, XM_017012478.1:c.240G>T, XP_005249874.1:p.Glu103Asp, XP_011513765.1:p.Glu103Asp, XP_011513766.1:p.Glu80Asp, NP_067046.1:p.Glu80Asp, XP_024302619.1:p.Glu103Asp, XP_016867967.1:p.Glu80Asp

Select item 14637986835.

rs1463798683 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:44140996 (GRCh38)
7:44180595 (GRCh37)
Canonical SPDI:: NC_000007.14:44140995:T:C,NC_000007.14:44140995:T:G
Gene:: MYL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.44140996T>C, NC_000007.14:g.44140996T>G, NC_000007.13:g.44180595T>C, NC_000007.13:g.44180595T>G, XM_005249817.5:c.82A>G, XM_005249817.5:c.82A>C, XM_005249817.4:c.82A>G, XM_005249817.4:c.82A>C, XM_005249817.3:c.82A>G, XM_005249817.3:c.82A>C, XM_005249817.2:c.82A>G, XM_005249817.2:c.82A>C, XM_005249817.1:c.82A>G, XM_005249817.1:c.82A>C, XM_011515463.3:c.82A>G, XM_011515463.3:c.82A>C, XM_011515463.2:c.82A>G, XM_011515463.2:c.82A>C, XM_011515463.1:c.82A>G, XM_011515463.1:c.82A>C, XM_011515464.3:c.82A>G, XM_011515464.3:c.82A>C, XM_011515464.2:c.82A>G, XM_011515464.2:c.82A>C, XM_011515464.1:c.82A>G, XM_011515464.1:c.82A>C, NM_021223.3:c.82A>G, NM_021223.3:c.82A>C, NM_021223.2:c.82A>G, NM_021223.2:c.82A>C, XM_024446851.2:c.82A>G, XM_024446851.2:c.82A>C, XM_024446851.1:c.82A>G, XM_024446851.1:c.82A>C, XM_017012478.2:c.82A>G, XM_017012478.2:c.82A>C, XM_017012478.1:c.82A>G, XM_017012478.1:c.82A>C, XP_005249874.1:p.Met28Val, XP_005249874.1:p.Met28Leu, XP_011513765.1:p.Met28Val, XP_011513765.1:p.Met28Leu, XP_011513766.1:p.Met28Val, XP_011513766.1:p.Met28Leu, NP_067046.1:p.Met28Val, NP_067046.1:p.Met28Leu, XP_024302619.1:p.Met28Val, XP_024302619.1:p.Met28Leu, XP_016867967.1:p.Met28Val, XP_016867967.1:p.Met28Leu

Select item 14585756286.

rs1458575628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:44139543 (GRCh38)
7:44179142 (GRCh37)
Canonical SPDI:: NC_000007.14:44139542:G:C
Gene:: MYL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.44139543G>C, NC_000007.13:g.44179142G>C, XM_011515463.3:c.473C>G, XM_011515463.2:c.473C>G, XM_011515463.1:c.473C>G, XM_011515464.3:c.404C>G, XM_011515464.2:c.404C>G, XM_011515464.1:c.404C>G, NM_021223.3:c.404C>G, NM_021223.2:c.404C>G, XM_024446851.2:c.473C>G, XM_024446851.1:c.473C>G, XP_011513765.1:p.Ala158Gly, XP_011513766.1:p.Ala135Gly, NP_067046.1:p.Ala135Gly, XP_024302619.1:p.Ala158Gly

Select item 14487057537.

rs1448705753 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:44139845 (GRCh38)
7:44179444 (GRCh37)
Canonical SPDI:: NC_000007.14:44139844:T:C
Gene:: MYL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.44139845T>C, NC_000007.13:g.44179444T>C, XM_005249817.5:c.383A>G, XM_005249817.4:c.383A>G, XM_005249817.3:c.383A>G, XM_005249817.2:c.383A>G, XM_005249817.1:c.383A>G, XM_011515463.3:c.383A>G, XM_011515463.2:c.383A>G, XM_011515463.1:c.383A>G, XM_011515464.3:c.314A>G, XM_011515464.2:c.314A>G, XM_011515464.1:c.314A>G, NM_021223.3:c.314A>G, NM_021223.2:c.314A>G, XM_024446851.2:c.383A>G, XM_024446851.1:c.383A>G, XM_017012478.2:c.314A>G, XM_017012478.1:c.314A>G, XP_005249874.1:p.Glu128Gly, XP_011513765.1:p.Glu128Gly, XP_011513766.1:p.Glu105Gly, NP_067046.1:p.Glu105Gly, XP_024302619.1:p.Glu128Gly, XP_016867967.1:p.Glu105Gly

Select item 14427535658.

rs1442753565 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:44141016 (GRCh38)
7:44180615 (GRCh37)
Canonical SPDI:: NC_000007.14:44141015:C:T
Gene:: MYL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.44141016C>T, NC_000007.13:g.44180615C>T, XM_005249817.5:c.62G>A, XM_005249817.4:c.62G>A, XM_005249817.3:c.62G>A, XM_005249817.2:c.62G>A, XM_005249817.1:c.62G>A, XM_011515463.3:c.62G>A, XM_011515463.2:c.62G>A, XM_011515463.1:c.62G>A, XM_011515464.3:c.62G>A, XM_011515464.2:c.62G>A, XM_011515464.1:c.62G>A, NM_021223.3:c.62G>A, NM_021223.2:c.62G>A, XM_024446851.2:c.62G>A, XM_024446851.1:c.62G>A, XM_017012478.2:c.62G>A, XM_017012478.1:c.62G>A, XP_005249874.1:p.Gly21Asp, XP_011513765.1:p.Gly21Asp, XP_011513766.1:p.Gly21Asp, NP_067046.1:p.Gly21Asp, XP_024302619.1:p.Gly21Asp, XP_016867967.1:p.Gly21Asp

Select item 14423832329.

rs1442383232 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:44139795 (GRCh38)
7:44179394 (GRCh37)
Canonical SPDI:: NC_000007.14:44139794:C:T
Gene:: MYL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.44139795C>T, NC_000007.13:g.44179394C>T, XM_005249817.5:c.433G>A, XM_005249817.4:c.433G>A, XM_005249817.3:c.433G>A, XM_005249817.2:c.433G>A, XM_005249817.1:c.433G>A, XM_011515463.3:c.433G>A, XM_011515463.2:c.433G>A, XM_011515463.1:c.433G>A, XM_011515464.3:c.364G>A, XM_011515464.2:c.364G>A, XM_011515464.1:c.364G>A, NM_021223.3:c.364G>A, NM_021223.2:c.364G>A, XM_024446851.2:c.433G>A, XM_024446851.1:c.433G>A, XM_017012478.2:c.364G>A, XM_017012478.1:c.364G>A, XP_005249874.1:p.Val145Met, XP_011513765.1:p.Val145Met, XP_011513766.1:p.Val122Met, NP_067046.1:p.Val122Met, XP_024302619.1:p.Val145Met, XP_016867967.1:p.Val122Met

Select item 143911302410.

rs1439113024 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:44139803 (GRCh38)
7:44179402 (GRCh37)
Canonical SPDI:: NC_000007.14:44139802:T:C
Gene:: MYL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.44139803T>C, NC_000007.13:g.44179402T>C, XM_005249817.5:c.425A>G, XM_005249817.4:c.425A>G, XM_005249817.3:c.425A>G, XM_005249817.2:c.425A>G, XM_005249817.1:c.425A>G, XM_011515463.3:c.425A>G, XM_011515463.2:c.425A>G, XM_011515463.1:c.425A>G, XM_011515464.3:c.356A>G, XM_011515464.2:c.356A>G, XM_011515464.1:c.356A>G, NM_021223.3:c.356A>G, NM_021223.2:c.356A>G, XM_024446851.2:c.425A>G, XM_024446851.1:c.425A>G, XM_017012478.2:c.356A>G, XM_017012478.1:c.356A>G, XP_005249874.1:p.Lys142Arg, XP_011513765.1:p.Lys142Arg, XP_011513766.1:p.Lys119Arg, NP_067046.1:p.Lys119Arg, XP_024302619.1:p.Lys142Arg, XP_016867967.1:p.Lys119Arg

Select item 142100127511.

rs1421001275 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:44140374 (GRCh38)
7:44179973 (GRCh37)
Canonical SPDI:: NC_000007.14:44140373:C:T
Gene:: MYL7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.44140374C>T, NC_000007.13:g.44179973C>T, XM_005249817.5:c.316G>A, XM_005249817.4:c.316G>A, XM_005249817.3:c.316G>A, XM_005249817.2:c.316G>A, XM_005249817.1:c.316G>A, XM_011515463.3:c.316G>A, XM_011515463.2:c.316G>A, XM_011515463.1:c.316G>A, XM_011515464.3:c.247G>A, XM_011515464.2:c.247G>A, XM_011515464.1:c.247G>A, NM_021223.3:c.247G>A, NM_021223.2:c.247G>A, XM_024446851.2:c.316G>A, XM_024446851.1:c.316G>A, XM_017012478.2:c.247G>A, XM_017012478.1:c.247G>A, XP_005249874.1:p.Gly106Ser, XP_011513765.1:p.Gly106Ser, XP_011513766.1:p.Gly83Ser, NP_067046.1:p.Gly83Ser, XP_024302619.1:p.Gly106Ser, XP_016867967.1:p.Gly83Ser

Select item 141795666012.

rs1417956660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:44140779 (GRCh38)
7:44180378 (GRCh37)
Canonical SPDI:: NC_000007.14:44140778:G:C
Gene:: MYL7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.44140779G>C, NC_000007.13:g.44180378G>C, XM_005249817.5:c.195C>G, XM_005249817.4:c.195C>G, XM_005249817.3:c.195C>G, XM_005249817.2:c.195C>G, XM_005249817.1:c.195C>G, XM_011515463.3:c.195C>G, XM_011515463.2:c.195C>G, XM_011515463.1:c.195C>G, XM_011515464.3:c.126C>G, XM_011515464.2:c.126C>G, XM_011515464.1:c.126C>G, NM_021223.3:c.126C>G, NM_021223.2:c.126C>G, XM_024446851.2:c.195C>G, XM_024446851.1:c.195C>G, XM_017012478.2:c.126C>G, XM_017012478.1:c.126C>G, XP_005249874.1:p.Ser65Arg, XP_011513765.1:p.Ser65Arg, XP_011513766.1:p.Ser42Arg, NP_067046.1:p.Ser42Arg, XP_024302619.1:p.Ser65Arg, XP_016867967.1:p.Ser42Arg

Select item 141476855413.

rs1414768554 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:44138991 (GRCh38)
7:44178590 (GRCh37)
Canonical SPDI:: NC_000007.14:44138990:T:G
Gene:: MYL7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.44138991T>G, NC_000007.13:g.44178590T>G, XM_005249817.5:c.*10A>C, XM_005249817.4:c.*10A>C, XM_005249817.3:c.*10A>C, XM_005249817.2:c.*10A>C, XM_005249817.1:c.*10A>C, XM_011515463.3:c.626A>C, XM_011515463.2:c.626A>C, XM_011515463.1:c.626A>C, XM_011515464.3:c.557A>C, XM_011515464.2:c.557A>C, XM_011515464.1:c.557A>C, NM_021223.3:c.458A>C, NM_021223.2:c.458A>C, XM_024446851.2:c.527A>C, XM_024446851.1:c.527A>C, XM_017012478.2:c.*10A>C, XM_017012478.1:c.*10A>C, XP_011513765.1:p.Asp209Ala, XP_011513766.1:p.Asp186Ala, NP_067046.1:p.Asp153Ala, XP_024302619.1:p.Asp176Ala

Select item 141060240714.

rs1410602407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:44140389 (GRCh38)
7:44179988 (GRCh37)
Canonical SPDI:: NC_000007.14:44140388:G:T
Gene:: MYL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.44140389G>T, NC_000007.13:g.44179988G>T, XM_005249817.5:c.301C>A, XM_005249817.4:c.301C>A, XM_005249817.3:c.301C>A, XM_005249817.2:c.301C>A, XM_005249817.1:c.301C>A, XM_011515463.3:c.301C>A, XM_011515463.2:c.301C>A, XM_011515463.1:c.301C>A, XM_011515464.3:c.232C>A, XM_011515464.2:c.232C>A, XM_011515464.1:c.232C>A, NM_021223.3:c.232C>A, NM_021223.2:c.232C>A, XM_024446851.2:c.301C>A, XM_024446851.1:c.301C>A, XM_017012478.2:c.232C>A, XM_017012478.1:c.232C>A, XP_005249874.1:p.Leu101Met, XP_011513765.1:p.Leu101Met, XP_011513766.1:p.Leu78Met, NP_067046.1:p.Leu78Met, XP_024302619.1:p.Leu101Met, XP_016867967.1:p.Leu78Met

Select item 140802687715.

rs1408026877 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:44139014 (GRCh38)
7:44178613 (GRCh37)
Canonical SPDI:: NC_000007.14:44139013:C:G
Gene:: MYL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.44139014C>G, NC_000007.13:g.44178613C>G, XM_005249817.5:c.455G>C, XM_005249817.4:c.455G>C, XM_005249817.3:c.455G>C, XM_005249817.2:c.455G>C, XM_005249817.1:c.455G>C, XM_011515463.3:c.603G>C, XM_011515463.2:c.603G>C, XM_011515463.1:c.603G>C, XM_011515464.3:c.534G>C, XM_011515464.2:c.534G>C, XM_011515464.1:c.534G>C, NM_021223.3:c.435G>C, NM_021223.2:c.435G>C, XM_024446851.2:c.504G>C, XM_024446851.1:c.504G>C, XM_017012478.2:c.386G>C, XM_017012478.1:c.386G>C, XP_005249874.1:p.Arg152Thr, XP_011513765.1:p.Gln201His, XP_011513766.1:p.Gln178His, NP_067046.1:p.Gln145His, XP_024302619.1:p.Gln168His, XP_016867967.1:p.Arg129Thr

Select item 140158972016.

rs1401589720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:44138935 (GRCh38)
7:44178534 (GRCh37)
Canonical SPDI:: NC_000007.14:44138934:C:T
Gene:: MYL7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.44138935C>T, NC_000007.13:g.44178534C>T, XM_005249817.5:c.*66G>A, XM_005249817.4:c.*66G>A, XM_005249817.3:c.*66G>A, XM_005249817.2:c.*66G>A, XM_005249817.1:c.*66G>A, XM_011515463.3:c.682G>A, XM_011515463.2:c.682G>A, XM_011515463.1:c.682G>A, XM_011515464.3:c.613G>A, XM_011515464.2:c.613G>A, XM_011515464.1:c.613G>A, NM_021223.3:c.514G>A, NM_021223.2:c.514G>A, XM_024446851.2:c.583G>A, XM_024446851.1:c.583G>A, XM_017012478.2:c.*66G>A, XM_017012478.1:c.*66G>A, XP_011513765.1:p.Glu228Lys, XP_011513766.1:p.Glu205Lys, NP_067046.1:p.Glu172Lys, XP_024302619.1:p.Glu195Lys

Select item 139692601617.

rs1396926016 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:44140967 (GRCh38)
7:44180566 (GRCh37)
Canonical SPDI:: NC_000007.14:44140966:G:A,NC_000007.14:44140966:G:T
Gene:: MYL7 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.44140967G>A, NC_000007.14:g.44140967G>T, NC_000007.13:g.44180566G>A, NC_000007.13:g.44180566G>T, XM_005249817.5:c.111C>T, XM_005249817.5:c.111C>A, XM_005249817.4:c.111C>T, XM_005249817.4:c.111C>A, XM_005249817.3:c.111C>T, XM_005249817.3:c.111C>A, XM_005249817.2:c.111C>T, XM_005249817.2:c.111C>A, XM_005249817.1:c.111C>T, XM_005249817.1:c.111C>A, XM_011515463.3:c.111C>T, XM_011515463.3:c.111C>A, XM_011515463.2:c.111C>T, XM_011515463.2:c.111C>A, XM_011515463.1:c.111C>T, XM_011515463.1:c.111C>A, XM_011515464.3:c.111C>T, XM_011515464.3:c.111C>A, XM_011515464.2:c.111C>T, XM_011515464.2:c.111C>A, XM_011515464.1:c.111C>T, XM_011515464.1:c.111C>A, NM_021223.3:c.111C>T, NM_021223.3:c.111C>A, NM_021223.2:c.111C>T, NM_021223.2:c.111C>A, XM_024446851.2:c.111C>T, XM_024446851.2:c.111C>A, XM_024446851.1:c.111C>T, XM_024446851.1:c.111C>A, XM_017012478.2:c.111C>T, XM_017012478.2:c.111C>A, XM_017012478.1:c.111C>T, XM_017012478.1:c.111C>A, XP_005249874.1:p.Phe37Leu, XP_011513765.1:p.Phe37Leu, XP_011513766.1:p.Phe37Leu, NP_067046.1:p.Phe37Leu, XP_024302619.1:p.Phe37Leu, XP_016867967.1:p.Phe37Leu

Select item 139390986818.

rs1393909868 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:44139552 (GRCh38)
7:44179151 (GRCh37)
Canonical SPDI:: NC_000007.14:44139551:A:G
Gene:: MYL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.44139552A>G, NC_000007.13:g.44179151A>G, XM_011515463.3:c.464T>C, XM_011515463.2:c.464T>C, XM_011515463.1:c.464T>C, XM_011515464.3:c.395T>C, XM_011515464.2:c.395T>C, XM_011515464.1:c.395T>C, NM_021223.3:c.395T>C, NM_021223.2:c.395T>C, XM_024446851.2:c.464T>C, XM_024446851.1:c.464T>C, XP_011513765.1:p.Leu155Pro, XP_011513766.1:p.Leu132Pro, NP_067046.1:p.Leu132Pro, XP_024302619.1:p.Leu155Pro

Select item 137979408919.

rs1379794089 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:44141073 (GRCh38)
7:44180672 (GRCh37)
Canonical SPDI:: NC_000007.14:44141072:G:A
Gene:: MYL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.44141073G>A, NC_000007.13:g.44180672G>A, XM_005249817.5:c.5C>T, XM_005249817.4:c.5C>T, XM_005249817.3:c.5C>T, XM_005249817.2:c.5C>T, XM_005249817.1:c.5C>T, XM_011515463.3:c.5C>T, XM_011515463.2:c.5C>T, XM_011515463.1:c.5C>T, XM_011515464.3:c.5C>T, XM_011515464.2:c.5C>T, XM_011515464.1:c.5C>T, NM_021223.3:c.5C>T, NM_021223.2:c.5C>T, XM_024446851.2:c.5C>T, XM_024446851.1:c.5C>T, XM_017012478.2:c.5C>T, XM_017012478.1:c.5C>T, XP_005249874.1:p.Ala2Val, XP_011513765.1:p.Ala2Val, XP_011513766.1:p.Ala2Val, NP_067046.1:p.Ala2Val, XP_024302619.1:p.Ala2Val, XP_016867967.1:p.Ala2Val

Select item 137020919320.

rs1370209193 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:44140339 (GRCh38)
7:44179938 (GRCh37)
Canonical SPDI:: NC_000007.14:44140338:A:C
Gene:: MYL7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.44140339A>C, NC_000007.13:g.44179938A>C, XM_005249817.5:c.351T>G, XM_005249817.4:c.351T>G, XM_005249817.3:c.351T>G, XM_005249817.2:c.351T>G, XM_005249817.1:c.351T>G, XM_011515463.3:c.351T>G, XM_011515463.2:c.351T>G, XM_011515463.1:c.351T>G, XM_011515464.3:c.282T>G, XM_011515464.2:c.282T>G, XM_011515464.1:c.282T>G, NM_021223.3:c.282T>G, NM_021223.2:c.282T>G, XM_024446851.2:c.351T>G, XM_024446851.1:c.351T>G, XM_017012478.2:c.282T>G, XM_017012478.1:c.282T>G, XP_005249874.1:p.Phe117Leu, XP_011513765.1:p.Phe117Leu, XP_011513766.1:p.Phe94Leu, NP_067046.1:p.Phe94Leu, XP_024302619.1:p.Phe117Leu, XP_016867967.1:p.Phe94Leu

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Result Filters

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Items: 1 to 20 of 177

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