SNP Links for Protein (Select 1017029565) - SNP

Links from Protein

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Select item 14904606971.

rs1490460697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:96604904 (GRCh38)
6:97052780 (GRCh37)
Canonical SPDI:: NC_000006.12:96604903:G:A
Gene:: FHL5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.96604904G>A, NC_000006.11:g.97052780G>A, NM_020482.6:c.314G>A, NM_020482.5:c.314G>A, NM_020482.4:c.314G>A, NM_001170807.3:c.314G>A, NM_001170807.2:c.314G>A, NM_001170807.1:c.314G>A, NM_001322466.2:c.314G>A, NM_001322466.1:c.314G>A, XM_047419567.1:c.314G>A, NM_001322467.1:c.314G>A, NP_065228.4:p.Cys105Tyr, NP_001164278.1:p.Cys105Tyr, NP_001309395.1:p.Cys105Tyr, XP_047275523.1:p.Cys105Tyr, NP_001309396.1:p.Cys105Tyr

Select item 14829690062.

rs1482969006 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:96604853 (GRCh38)
6:97052729 (GRCh37)
Canonical SPDI:: NC_000006.12:96604852:T:C
Gene:: FHL5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.96604853T>C, NC_000006.11:g.97052729T>C, NM_020482.6:c.263T>C, NM_020482.5:c.263T>C, NM_020482.4:c.263T>C, NM_001170807.3:c.263T>C, NM_001170807.2:c.263T>C, NM_001170807.1:c.263T>C, NM_001322466.2:c.263T>C, NM_001322466.1:c.263T>C, XM_047419567.1:c.263T>C, NM_001322467.1:c.263T>C, NP_065228.4:p.Leu88Pro, NP_001164278.1:p.Leu88Pro, NP_001309395.1:p.Leu88Pro, XP_047275523.1:p.Leu88Pro, NP_001309396.1:p.Leu88Pro

Select item 14806895413.

rs1480689541 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:96604836 (GRCh38)
6:97052712 (GRCh37)
Canonical SPDI:: NC_000006.12:96604835:T:C
Gene:: FHL5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.96604836T>C, NC_000006.11:g.97052712T>C, NM_020482.6:c.246T>C, NM_020482.5:c.246T>C, NM_020482.4:c.246T>C, NM_001170807.3:c.246T>C, NM_001170807.2:c.246T>C, NM_001170807.1:c.246T>C, NM_001322466.2:c.246T>C, NM_001322466.1:c.246T>C, XM_047419567.1:c.246T>C, NM_001322467.1:c.246T>C

Select item 14770938644.

rs1477093864 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:96615627 (GRCh38)
6:97063503 (GRCh37)
Canonical SPDI:: NC_000006.12:96615626:T:C
Gene:: FHL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.96615627T>C, NC_000006.11:g.97063503T>C, NM_020482.6:c.710T>C, NM_020482.5:c.710T>C, NM_020482.4:c.710T>C, NM_001170807.3:c.710T>C, NM_001170807.2:c.710T>C, NM_001170807.1:c.710T>C, NM_001322466.2:c.710T>C, NM_001322466.1:c.710T>C, XM_047419567.1:c.710T>C, NM_001322467.1:c.710T>C, NP_065228.4:p.Phe237Ser, NP_001164278.1:p.Phe237Ser, NP_001309395.1:p.Phe237Ser, XP_047275523.1:p.Phe237Ser, NP_001309396.1:p.Phe237Ser

Select item 14733449515.

rs1473344951 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:96615748 (GRCh38)
6:97063624 (GRCh37)
Canonical SPDI:: NC_000006.12:96615747:C:T
Gene:: FHL5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.96615748C>T, NC_000006.11:g.97063624C>T, NM_020482.6:c.831C>T, NM_020482.5:c.831C>T, NM_020482.4:c.831C>T, NM_001170807.3:c.831C>T, NM_001170807.2:c.831C>T, NM_001170807.1:c.831C>T, NM_001322466.2:c.831C>T, NM_001322466.1:c.831C>T, XM_047419567.1:c.831C>T, NM_001322467.1:c.831C>T

Select item 14717634216.

rs1471763421 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:96603641 (GRCh38)
6:97051517 (GRCh37)
Canonical SPDI:: NC_000006.12:96603640:T:C
Gene:: FHL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.96603641T>C, NC_000006.11:g.97051517T>C, NM_020482.6:c.28T>C, NM_020482.5:c.28T>C, NM_020482.4:c.28T>C, NM_001170807.3:c.28T>C, NM_001170807.2:c.28T>C, NM_001170807.1:c.28T>C, NM_001322466.2:c.28T>C, NM_001322466.1:c.28T>C, XM_047419567.1:c.28T>C, NM_001322467.1:c.28T>C, NP_065228.4:p.Tyr10His, NP_001164278.1:p.Tyr10His, NP_001309395.1:p.Tyr10His, XP_047275523.1:p.Tyr10His, NP_001309396.1:p.Tyr10His

Select item 14693535877.

rs1469353587 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:96604826 (GRCh38)
6:97052702 (GRCh37)
Canonical SPDI:: NC_000006.12:96604825:A:C
Gene:: FHL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.96604826A>C, NC_000006.11:g.97052702A>C, NM_020482.6:c.236A>C, NM_020482.5:c.236A>C, NM_020482.4:c.236A>C, NM_001170807.3:c.236A>C, NM_001170807.2:c.236A>C, NM_001170807.1:c.236A>C, NM_001322466.2:c.236A>C, NM_001322466.1:c.236A>C, XM_047419567.1:c.236A>C, NM_001322467.1:c.236A>C, NP_065228.4:p.Lys79Thr, NP_001164278.1:p.Lys79Thr, NP_001309395.1:p.Lys79Thr, XP_047275523.1:p.Lys79Thr, NP_001309396.1:p.Lys79Thr

Select item 14606249028.

rs1460624902 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:96615637 (GRCh38)
6:97063514 (GRCh37)
Canonical SPDI:: NC_000006.12:96615637:C:CC
Gene:: FHL5 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.96615638dup, NC_000006.11:g.97063514dup, NM_020482.6:c.721dup, NM_020482.5:c.721dup, NM_020482.4:c.721dup, NM_001170807.3:c.721dup, NM_001170807.2:c.721dup, NM_001170807.1:c.721dup, NM_001322466.2:c.721dup, NM_001322466.1:c.721dup, XM_047419567.1:c.721dup, NM_001322467.1:c.721dup, NP_065228.4:p.Gln241fs, NP_001164278.1:p.Gln241fs, NP_001309395.1:p.Gln241fs, XP_047275523.1:p.Gln241fs, NP_001309396.1:p.Gln241fs

Select item 14562651849.

rs1456265184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:96610629 (GRCh38)
6:97058505 (GRCh37)
Canonical SPDI:: NC_000006.12:96610628:C:T
Gene:: FHL5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.96610629C>T, NC_000006.11:g.97058505C>T, NM_020482.6:c.562C>T, NM_020482.5:c.562C>T, NM_020482.4:c.562C>T, NM_001170807.3:c.562C>T, NM_001170807.2:c.562C>T, NM_001170807.1:c.562C>T, NM_001322466.2:c.562C>T, NM_001322466.1:c.562C>T, XM_047419567.1:c.562C>T, NM_001322467.1:c.562C>T

Select item 145472095510.

rs1454720955 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:96610684 (GRCh38)
6:97058560 (GRCh37)
Canonical SPDI:: NC_000006.12:96610683:A:T
Gene:: FHL5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.96610684A>T, NC_000006.11:g.97058560A>T, NM_020482.6:c.617A>T, NM_020482.5:c.617A>T, NM_020482.4:c.617A>T, NM_001170807.3:c.617A>T, NM_001170807.2:c.617A>T, NM_001170807.1:c.617A>T, NM_001322466.2:c.617A>T, NM_001322466.1:c.617A>T, XM_047419567.1:c.617A>T, NM_001322467.1:c.617A>T, NP_065228.4:p.Asp206Val, NP_001164278.1:p.Asp206Val, NP_001309395.1:p.Asp206Val, XP_047275523.1:p.Asp206Val, NP_001309396.1:p.Asp206Val

Select item 145205244111.

rs1452052441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:96615615 (GRCh38)
6:97063491 (GRCh37)
Canonical SPDI:: NC_000006.12:96615614:C:T
Gene:: FHL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.96615615C>T, NC_000006.11:g.97063491C>T, NM_020482.6:c.698C>T, NM_020482.5:c.698C>T, NM_020482.4:c.698C>T, NM_001170807.3:c.698C>T, NM_001170807.2:c.698C>T, NM_001170807.1:c.698C>T, NM_001322466.2:c.698C>T, NM_001322466.1:c.698C>T, XM_047419567.1:c.698C>T, NM_001322467.1:c.698C>T, NP_065228.4:p.Thr233Ile, NP_001164278.1:p.Thr233Ile, NP_001309395.1:p.Thr233Ile, XP_047275523.1:p.Thr233Ile, NP_001309396.1:p.Thr233Ile

Select item 144903132612.

rs1449031326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:96615725 (GRCh38)
6:97063601 (GRCh37)
Canonical SPDI:: NC_000006.12:96615724:G:A,NC_000006.12:96615724:G:T
Gene:: FHL5 (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.96615725G>A, NC_000006.12:g.96615725G>T, NC_000006.11:g.97063601G>A, NC_000006.11:g.97063601G>T, NM_020482.6:c.808G>A, NM_020482.6:c.808G>T, NM_020482.5:c.808G>A, NM_020482.5:c.808G>T, NM_020482.4:c.808G>A, NM_020482.4:c.808G>T, NM_001170807.3:c.808G>A, NM_001170807.3:c.808G>T, NM_001170807.2:c.808G>A, NM_001170807.2:c.808G>T, NM_001170807.1:c.808G>A, NM_001170807.1:c.808G>T, NM_001322466.2:c.808G>A, NM_001322466.2:c.808G>T, NM_001322466.1:c.808G>A, NM_001322466.1:c.808G>T, XM_047419567.1:c.808G>A, XM_047419567.1:c.808G>T, NM_001322467.1:c.808G>A, NM_001322467.1:c.808G>T, NP_065228.4:p.Glu270Lys, NP_065228.4:p.Glu270Ter, NP_001164278.1:p.Glu270Lys, NP_001164278.1:p.Glu270Ter, NP_001309395.1:p.Glu270Lys, NP_001309395.1:p.Glu270Ter, XP_047275523.1:p.Glu270Lys, XP_047275523.1:p.Glu270Ter, NP_001309396.1:p.Glu270Lys, NP_001309396.1:p.Glu270Ter

Select item 143588157713.

rs1435881577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:96610642 (GRCh38)
6:97058518 (GRCh37)
Canonical SPDI:: NC_000006.12:96610641:G:C
Gene:: FHL5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.96610642G>C, NC_000006.11:g.97058518G>C, NM_020482.6:c.575G>C, NM_020482.5:c.575G>C, NM_020482.4:c.575G>C, NM_001170807.3:c.575G>C, NM_001170807.2:c.575G>C, NM_001170807.1:c.575G>C, NM_001322466.2:c.575G>C, NM_001322466.1:c.575G>C, XM_047419567.1:c.575G>C, NM_001322467.1:c.575G>C, NP_065228.4:p.Cys192Ser, NP_001164278.1:p.Cys192Ser, NP_001309395.1:p.Cys192Ser, XP_047275523.1:p.Cys192Ser, NP_001309396.1:p.Cys192Ser

Select item 143110431814.

rs1431104318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:96604924 (GRCh38)
6:97052800 (GRCh37)
Canonical SPDI:: NC_000006.12:96604923:G:A
Gene:: FHL5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.96604924G>A, NC_000006.11:g.97052800G>A, NM_020482.6:c.334G>A, NM_020482.5:c.334G>A, NM_020482.4:c.334G>A, NM_001170807.3:c.334G>A, NM_001170807.2:c.334G>A, NM_001170807.1:c.334G>A, NM_001322466.2:c.334G>A, NM_001322466.1:c.334G>A, XM_047419567.1:c.334G>A, NM_001322467.1:c.334G>A, NP_065228.4:p.Gly112Ser, NP_001164278.1:p.Gly112Ser, NP_001309395.1:p.Gly112Ser, XP_047275523.1:p.Gly112Ser, NP_001309396.1:p.Gly112Ser

Select item 142942901215.

rs1429429012 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:96615655 (GRCh38)
6:97063531 (GRCh37)
Canonical SPDI:: NC_000006.12:96615654:T:C
Gene:: FHL5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.96615655T>C, NC_000006.11:g.97063531T>C, NM_020482.6:c.738T>C, NM_020482.5:c.738T>C, NM_020482.4:c.738T>C, NM_001170807.3:c.738T>C, NM_001170807.2:c.738T>C, NM_001170807.1:c.738T>C, NM_001322466.2:c.738T>C, NM_001322466.1:c.738T>C, XM_047419567.1:c.738T>C, NM_001322467.1:c.738T>C

Select item 141251260116.

rs1412512601 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:96610720 (GRCh38)
6:97058596 (GRCh37)
Canonical SPDI:: NC_000006.12:96610719:A:T
Gene:: FHL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.96610720A>T, NC_000006.11:g.97058596A>T, NM_020482.6:c.653A>T, NM_020482.5:c.653A>T, NM_020482.4:c.653A>T, NM_001170807.3:c.653A>T, NM_001170807.2:c.653A>T, NM_001170807.1:c.653A>T, NM_001322466.2:c.653A>T, NM_001322466.1:c.653A>T, XM_047419567.1:c.653A>T, NM_001322467.1:c.653A>T, NP_065228.4:p.Tyr218Phe, NP_001164278.1:p.Tyr218Phe, NP_001309395.1:p.Tyr218Phe, XP_047275523.1:p.Tyr218Phe, NP_001309396.1:p.Tyr218Phe

Select item 141182375217.

rs1411823752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:96610572 (GRCh38)
6:97058448 (GRCh37)
Canonical SPDI:: NC_000006.12:96610571:G:A
Gene:: FHL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.96610572G>A, NC_000006.11:g.97058448G>A, NM_020482.6:c.505G>A, NM_020482.5:c.505G>A, NM_020482.4:c.505G>A, NM_001170807.3:c.505G>A, NM_001170807.2:c.505G>A, NM_001170807.1:c.505G>A, NM_001322466.2:c.505G>A, NM_001322466.1:c.505G>A, XM_047419567.1:c.505G>A, NM_001322467.1:c.505G>A, NP_065228.4:p.Val169Met, NP_001164278.1:p.Val169Met, NP_001309395.1:p.Val169Met, XP_047275523.1:p.Val169Met, NP_001309396.1:p.Val169Met

Select item 141176223818.

rs1411762238 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:96606063 (GRCh38)
6:97053939 (GRCh37)
Canonical SPDI:: NC_000006.12:96606062:T:G
Gene:: FHL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.96606063T>G, NC_000006.11:g.97053939T>G, NM_020482.6:c.496T>G, NM_020482.5:c.496T>G, NM_020482.4:c.496T>G, NM_001170807.3:c.496T>G, NM_001170807.2:c.496T>G, NM_001170807.1:c.496T>G, NM_001322466.2:c.496T>G, NM_001322466.1:c.496T>G, XM_047419567.1:c.496T>G, NM_001322467.1:c.496T>G, NP_065228.4:p.Cys166Gly, NP_001164278.1:p.Cys166Gly, NP_001309395.1:p.Cys166Gly, XP_047275523.1:p.Cys166Gly, NP_001309396.1:p.Cys166Gly

Select item 140951820319.

rs1409518203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:96604855 (GRCh38)
6:97052731 (GRCh37)
Canonical SPDI:: NC_000006.12:96604854:C:T
Gene:: FHL5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.96604855C>T, NC_000006.11:g.97052731C>T, NM_020482.6:c.265C>T, NM_020482.5:c.265C>T, NM_020482.4:c.265C>T, NM_001170807.3:c.265C>T, NM_001170807.2:c.265C>T, NM_001170807.1:c.265C>T, NM_001322466.2:c.265C>T, NM_001322466.1:c.265C>T, XM_047419567.1:c.265C>T, NM_001322467.1:c.265C>T

Select item 140831245520.

rs1408312455 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:96615644 (GRCh38)
6:97063520 (GRCh37)
Canonical SPDI:: NC_000006.12:96615643:A:T
Gene:: FHL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.96615644A>T, NC_000006.11:g.97063520A>T, NM_020482.6:c.727A>T, NM_020482.5:c.727A>T, NM_020482.4:c.727A>T, NM_001170807.3:c.727A>T, NM_001170807.2:c.727A>T, NM_001170807.1:c.727A>T, NM_001322466.2:c.727A>T, NM_001322466.1:c.727A>T, XM_047419567.1:c.727A>T, NM_001322467.1:c.727A>T, NP_065228.4:p.Ser243Cys, NP_001164278.1:p.Ser243Cys, NP_001309395.1:p.Ser243Cys, XP_047275523.1:p.Ser243Cys, NP_001309396.1:p.Ser243Cys

dbSNP

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