SNP Links for Protein (Select 1034601527) - SNP

Select item 14908381431.

rs1490838143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38562023 (GRCh38)
17:36718259 (GRCh37)
Canonical SPDI:: NC_000017.11:38562022:C:T
Gene:: SRCIN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.38562023C>T, NT_187614.1:g.2597325C>T, NC_000017.10:g.36718259C>T, NM_025248.3:c.1140G>A, NM_025248.2:c.1140G>A, XM_017025169.2:c.1197G>A, XM_017025169.1:c.1197G>A, XM_017025170.2:c.1344G>A, XM_017025170.1:c.1344G>A, XM_017025171.2:c.1344G>A, XM_017025171.1:c.1344G>A, XM_017025172.2:c.1242G>A, XM_017025172.1:c.1242G>A, XM_017025173.2:c.1344G>A, XM_017025173.1:c.1344G>A, XM_047436851.1:c.1344G>A, XM_047436852.1:c.1173G>A

Select item 14905712022.

rs1490571202 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:38559688 (GRCh38)
17:36715924 (GRCh37)
Canonical SPDI:: NC_000017.11:38559687:T:C
Gene:: SRCIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.38559688T>C, NT_187614.1:g.2594990T>C, NC_000017.10:g.36715924T>C, NM_025248.3:c.1922A>G, NM_025248.2:c.1922A>G, XM_017025169.2:c.2030A>G, XM_017025169.1:c.2030A>G, XM_017025170.2:c.2126A>G, XM_017025170.1:c.2126A>G, XM_017025171.2:c.2126A>G, XM_017025171.1:c.2126A>G, XM_017025172.2:c.2024A>G, XM_017025172.1:c.2024A>G, XM_017025173.2:c.2126A>G, XM_017025173.1:c.2126A>G, XM_047436851.1:c.2126A>G, XM_047436852.1:c.1955A>G, NP_079524.2:p.Gln641Arg, XP_016880658.1:p.Gln677Arg, XP_016880659.1:p.Gln709Arg, XP_016880660.1:p.Gln709Arg, XP_016880661.1:p.Gln675Arg, XP_016880662.1:p.Gln709Arg, XP_047292807.1:p.Gln709Arg, XP_047292808.1:p.Gln652Arg

Select item 14872762703.

rs1487276270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:38604508 (GRCh38)
17:36760761 (GRCh37)
Canonical SPDI:: NC_000017.11:38604507:G:T
Gene:: SRCIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.38604508G>T, NC_000017.10:g.36760761G>T, NT_187614.1:g.2639827G>T, XM_017025170.2:c.95C>A, XM_017025170.1:c.95C>A, XM_017025171.2:c.95C>A, XM_017025171.1:c.95C>A, XM_017025172.2:c.95C>A, XM_017025172.1:c.95C>A, XM_017025173.2:c.95C>A, XM_017025173.1:c.95C>A, XM_047436851.1:c.95C>A, XP_016880659.1:p.Pro32Gln, XP_016880660.1:p.Pro32Gln, XP_016880661.1:p.Pro32Gln, XP_016880662.1:p.Pro32Gln, XP_047292807.1:p.Pro32Gln

Select item 14869411254.

rs1486941125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38578604 (GRCh38)
17:36734857 (GRCh37)
Canonical SPDI:: NC_000017.11:38578603:C:T
Gene:: SRCIN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.38578604C>T, NT_187614.1:g.2613923C>T, NC_000017.10:g.36734857C>T, NM_025248.3:c.210G>A, NM_025248.2:c.210G>A, XM_017025169.2:c.165G>A, XM_017025169.1:c.165G>A, XM_017025170.2:c.312G>A, XM_017025170.1:c.312G>A, XM_017025171.2:c.312G>A, XM_017025171.1:c.312G>A, XM_017025172.2:c.312G>A, XM_017025172.1:c.312G>A, XM_017025173.2:c.312G>A, XM_017025173.1:c.312G>A, XM_047436851.1:c.312G>A, XM_047436852.1:c.165G>A

Select item 14866599885.

rs1486659988 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCC>- [Show Flanks]
Chromosome:: 17:38560073 (GRCh38)
17:36716309 (GRCh37)
Canonical SPDI:: NC_000017.11:38560071:CTCC:C
Gene:: SRCIN1 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.38560073_38560075del, NT_187614.1:g.2595375_2595377del, NC_000017.10:g.36716309_36716311del, NM_025248.3:c.1817_1819del, NM_025248.2:c.1817_1819del, XM_017025169.2:c.1925_1927del, XM_017025169.1:c.1925_1927del, XM_017025170.2:c.2021_2023del, XM_017025170.1:c.2021_2023del, XM_017025171.2:c.2021_2023del, XM_017025171.1:c.2021_2023del, XM_017025172.2:c.1919_1921del, XM_017025172.1:c.1919_1921del, XM_017025173.2:c.2021_2023del, XM_017025173.1:c.2021_2023del, XM_047436851.1:c.2021_2023del, XM_047436852.1:c.1850_1852del, NP_079524.2:p.Gly606del, XP_016880658.1:p.Gly642del, XP_016880659.1:p.Gly674del, XP_016880660.1:p.Gly674del, XP_016880661.1:p.Gly640del, XP_016880662.1:p.Gly674del, XP_047292807.1:p.Gly674del, XP_047292808.1:p.Gly617del

Select item 14847691606.

rs1484769160 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:38564211 (GRCh38)
17:36720447 (GRCh37)
Canonical SPDI:: NC_000017.11:38564210:C:A
Gene:: SRCIN1 (Varview), LOC105371761 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.38564211C>A, NT_187614.1:g.2599513C>A, NC_000017.10:g.36720447C>A, NM_025248.3:c.448G>T, NM_025248.2:c.448G>T, XM_017025169.2:c.505G>T, XM_017025169.1:c.505G>T, XM_017025170.2:c.652G>T, XM_017025170.1:c.652G>T, XM_017025171.2:c.652G>T, XM_017025171.1:c.652G>T, XM_017025172.2:c.550G>T, XM_017025172.1:c.550G>T, XM_017025173.2:c.652G>T, XM_017025173.1:c.652G>T, XM_047436851.1:c.652G>T, XM_047436852.1:c.481G>T, NP_079524.2:p.Ala150Ser, XP_016880658.1:p.Ala169Ser, XP_016880659.1:p.Ala218Ser, XP_016880660.1:p.Ala218Ser, XP_016880661.1:p.Ala184Ser, XP_016880662.1:p.Ala218Ser, XP_047292807.1:p.Ala218Ser, XP_047292808.1:p.Ala161Ser

Select item 14840780577.

rs1484078057 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:38533426 (GRCh38)
17:36689661 (GRCh37)
Canonical SPDI:: NC_000017.11:38533425:A:T
Gene:: SRCIN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.38533426A>T, NT_187614.1:g.2568727A>T, NC_000017.10:g.36689661A>T, NW_003315948.2:g.317046A>T, NM_025248.3:c.3423T>A, NM_025248.2:c.3423T>A, XM_017025169.2:c.4311T>A, XM_017025169.1:c.4311T>A, XM_017025170.2:c.3750T>A, XM_017025170.1:c.3750T>A, XM_017025171.2:c.3627T>A, XM_017025171.1:c.3627T>A, XM_017025172.2:c.3525T>A, XM_017025172.1:c.3525T>A

Select item 14833921948.

rs1483392194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:38561828 (GRCh38)
17:36718064 (GRCh37)
Canonical SPDI:: NC_000017.11:38561827:G:C
Gene:: SRCIN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000013/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.38561828G>C, NT_187614.1:g.2597130G>C, NC_000017.10:g.36718064G>C, NM_025248.3:c.1335C>G, NM_025248.2:c.1335C>G, XM_017025169.2:c.1392C>G, XM_017025169.1:c.1392C>G, XM_017025170.2:c.1539C>G, XM_017025170.1:c.1539C>G, XM_017025171.2:c.1539C>G, XM_017025171.1:c.1539C>G, XM_017025172.2:c.1437C>G, XM_017025172.1:c.1437C>G, XM_017025173.2:c.1539C>G, XM_017025173.1:c.1539C>G, XM_047436851.1:c.1539C>G, XM_047436852.1:c.1368C>G

Select item 14830437189.

rs1483043718 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38548643 (GRCh38)
17:36704879 (GRCh37)
Canonical SPDI:: NC_000017.11:38548642:C:T
Gene:: SRCIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
HGVS:: NC_000017.11:g.38548643C>T, NT_187614.1:g.2583945C>T, NC_000017.10:g.36704879C>T, NW_003315948.2:g.332264C>T, NM_025248.3:c.3184G>A, NM_025248.2:c.3184G>A, XM_017025169.2:c.3292G>A, XM_017025169.1:c.3292G>A, XM_017025170.2:c.3388G>A, XM_017025170.1:c.3388G>A, XM_017025171.2:c.3388G>A, XM_017025171.1:c.3388G>A, XM_017025172.2:c.3286G>A, XM_017025172.1:c.3286G>A, XM_017025173.2:c.3388G>A, XM_017025173.1:c.3388G>A, XM_047436851.1:c.3388G>A, XM_047436852.1:c.3217G>A, NP_079524.2:p.Val1062Met, XP_016880658.1:p.Val1098Met, XP_016880659.1:p.Val1130Met, XP_016880660.1:p.Val1130Met, XP_016880661.1:p.Val1096Met, XP_016880662.1:p.Val1130Met, XP_047292807.1:p.Val1130Met, XP_047292808.1:p.Val1073Met

Select item 148294339010.

rs1482943390 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38548587 (GRCh38)
17:36704823 (GRCh37)
Canonical SPDI:: NC_000017.11:38548586:A:G
Gene:: SRCIN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.38548587A>G, NT_187614.1:g.2583889A>G, NC_000017.10:g.36704823A>G, NW_003315948.2:g.332208A>G, NM_025248.3:c.3240T>C, NM_025248.2:c.3240T>C, XM_017025169.2:c.3348T>C, XM_017025169.1:c.3348T>C, XM_017025170.2:c.3444T>C, XM_017025170.1:c.3444T>C, XM_017025171.2:c.3444T>C, XM_017025171.1:c.3444T>C, XM_017025172.2:c.3342T>C, XM_017025172.1:c.3342T>C, XM_017025173.2:c.3444T>C, XM_017025173.1:c.3444T>C, XM_047436851.1:c.3444T>C, XM_047436852.1:c.3273T>C

Select item 148268987811.

rs1482689878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:38604531 (GRCh38)
17:36760784 (GRCh37)
Canonical SPDI:: NC_000017.11:38604530:G:C
Gene:: SRCIN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.38604531G>C, NC_000017.10:g.36760784G>C, NT_187614.1:g.2639850G>C, XM_017025170.2:c.72C>G, XM_017025170.1:c.72C>G, XM_017025171.2:c.72C>G, XM_017025171.1:c.72C>G, XM_017025172.2:c.72C>G, XM_017025172.1:c.72C>G, XM_017025173.2:c.72C>G, XM_017025173.1:c.72C>G, XM_047436851.1:c.72C>G

Select item 148245805012.

rs1482458050 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:38563406 (GRCh38)
17:36719642 (GRCh37)
Canonical SPDI:: NC_000017.11:38563405:G:A
Gene:: SRCIN1 (Varview), LOC105371761 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.38563406G>A, NT_187614.1:g.2598708G>A, NC_000017.10:g.36719642G>A, NM_025248.3:c.657C>T, NM_025248.2:c.657C>T, XM_017025169.2:c.714C>T, XM_017025169.1:c.714C>T, XM_017025170.2:c.861C>T, XM_017025170.1:c.861C>T, XM_017025171.2:c.861C>T, XM_017025171.1:c.861C>T, XM_017025172.2:c.759C>T, XM_017025172.1:c.759C>T, XM_017025173.2:c.861C>T, XM_017025173.1:c.861C>T, XM_047436851.1:c.861C>T, XM_047436852.1:c.690C>T

Select item 148238533713.

rs1482385337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:38562289 (GRCh38)
17:36718525 (GRCh37)
Canonical SPDI:: NC_000017.11:38562288:G:A
Gene:: SRCIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.38562289G>A, NT_187614.1:g.2597591G>A, NC_000017.10:g.36718525G>A, NM_025248.3:c.874C>T, NM_025248.2:c.874C>T, XM_017025169.2:c.931C>T, XM_017025169.1:c.931C>T, XM_017025170.2:c.1078C>T, XM_017025170.1:c.1078C>T, XM_017025171.2:c.1078C>T, XM_017025171.1:c.1078C>T, XM_017025172.2:c.976C>T, XM_017025172.1:c.976C>T, XM_017025173.2:c.1078C>T, XM_017025173.1:c.1078C>T, XM_047436851.1:c.1078C>T, XM_047436852.1:c.907C>T, NP_079524.2:p.Arg292Trp, XP_016880658.1:p.Arg311Trp, XP_016880659.1:p.Arg360Trp, XP_016880660.1:p.Arg360Trp, XP_016880661.1:p.Arg326Trp, XP_016880662.1:p.Arg360Trp, XP_047292807.1:p.Arg360Trp, XP_047292808.1:p.Arg303Trp

Select item 148223081614.

rs1482230816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:38559617 (GRCh38)
17:36715853 (GRCh37)
Canonical SPDI:: NC_000017.11:38559616:G:C,NC_000017.11:38559616:G:T
Gene:: SRCIN1 (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)
HGVS:: NC_000017.11:g.38559617G>C, NC_000017.11:g.38559617G>T, NT_187614.1:g.2594919G>C, NT_187614.1:g.2594919G>T, NC_000017.10:g.36715853G>C, NC_000017.10:g.36715853G>T, NM_025248.3:c.1993C>G, NM_025248.3:c.1993C>A, NM_025248.2:c.1993C>G, NM_025248.2:c.1993C>A, XM_017025169.2:c.2101C>G, XM_017025169.2:c.2101C>A, XM_017025169.1:c.2101C>G, XM_017025169.1:c.2101C>A, XM_017025170.2:c.2197C>G, XM_017025170.2:c.2197C>A, XM_017025170.1:c.2197C>G, XM_017025170.1:c.2197C>A, XM_017025171.2:c.2197C>G, XM_017025171.2:c.2197C>A, XM_017025171.1:c.2197C>G, XM_017025171.1:c.2197C>A, XM_017025172.2:c.2095C>G, XM_017025172.2:c.2095C>A, XM_017025172.1:c.2095C>G, XM_017025172.1:c.2095C>A, XM_017025173.2:c.2197C>G, XM_017025173.2:c.2197C>A, XM_017025173.1:c.2197C>G, XM_017025173.1:c.2197C>A, XM_047436851.1:c.2197C>G, XM_047436851.1:c.2197C>A, XM_047436852.1:c.2026C>G, XM_047436852.1:c.2026C>A, NP_079524.2:p.Arg665Gly, NP_079524.2:p.Arg665Ser, XP_016880658.1:p.Arg701Gly, XP_016880658.1:p.Arg701Ser, XP_016880659.1:p.Arg733Gly, XP_016880659.1:p.Arg733Ser, XP_016880660.1:p.Arg733Gly, XP_016880660.1:p.Arg733Ser, XP_016880661.1:p.Arg699Gly, XP_016880661.1:p.Arg699Ser, XP_016880662.1:p.Arg733Gly, XP_016880662.1:p.Arg733Ser, XP_047292807.1:p.Arg733Gly, XP_047292807.1:p.Arg733Ser, XP_047292808.1:p.Arg676Gly, XP_047292808.1:p.Arg676Ser

Select item 148193912415.

rs1481939124 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38543944 (GRCh38)
17:36700179 (GRCh37)
Canonical SPDI:: NC_000017.11:38543943:A:G
Gene:: SRCIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.38543944A>G, NT_187614.1:g.2579245A>G, NC_000017.10:g.36700179A>G, NW_003315948.2:g.327564A>G, NM_025248.3:c.3296T>C, NM_025248.2:c.3296T>C, XM_017025169.2:c.4184T>C, XM_017025169.1:c.4184T>C, XM_017025170.2:c.3623T>C, XM_017025170.1:c.3623T>C, XM_017025171.2:c.3500T>C, XM_017025171.1:c.3500T>C, XM_017025172.2:c.3398T>C, XM_017025172.1:c.3398T>C, XM_017025173.2:c.3500T>C, XM_017025173.1:c.3500T>C, XM_047436851.1:c.3623T>C, XM_047436852.1:c.3452T>C, NP_079524.2:p.Met1099Thr, XP_016880658.1:p.Met1395Thr, XP_016880659.1:p.Met1208Thr, XP_016880660.1:p.Met1167Thr, XP_016880661.1:p.Met1133Thr, XP_016880662.1:p.Met1167Thr, XP_047292807.1:p.Met1208Thr, XP_047292808.1:p.Met1151Thr

Select item 148193186216.

rs1481931862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:38549150 (GRCh38)
17:36705386 (GRCh37)
Canonical SPDI:: NC_000017.11:38549149:G:A
Gene:: SRCIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.38549150G>A, NT_187614.1:g.2584452G>A, NC_000017.10:g.36705386G>A, NW_003315948.2:g.332771G>A, NM_025248.3:c.3023C>T, NM_025248.2:c.3023C>T, XM_017025169.2:c.3131C>T, XM_017025169.1:c.3131C>T, XM_017025170.2:c.3227C>T, XM_017025170.1:c.3227C>T, XM_017025171.2:c.3227C>T, XM_017025171.1:c.3227C>T, XM_017025172.2:c.3125C>T, XM_017025172.1:c.3125C>T, XM_017025173.2:c.3227C>T, XM_017025173.1:c.3227C>T, XM_047436851.1:c.3227C>T, XM_047436852.1:c.3056C>T, NP_079524.2:p.Pro1008Leu, XP_016880658.1:p.Pro1044Leu, XP_016880659.1:p.Pro1076Leu, XP_016880660.1:p.Pro1076Leu, XP_016880661.1:p.Pro1042Leu, XP_016880662.1:p.Pro1076Leu, XP_047292807.1:p.Pro1076Leu, XP_047292808.1:p.Pro1019Leu

Select item 148174083717.

rs1481740837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38552798 (GRCh38)
17:36709034 (GRCh37)
Canonical SPDI:: NC_000017.11:38552797:C:T
Gene:: SRCIN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.38552798C>T, NT_187614.1:g.2588100C>T, NC_000017.10:g.36709034C>T, NW_003315948.2:g.336419C>T, NM_025248.3:c.2259G>A, NM_025248.2:c.2259G>A, XM_017025169.2:c.2367G>A, XM_017025169.1:c.2367G>A, XM_017025170.2:c.2463G>A, XM_017025170.1:c.2463G>A, XM_017025171.2:c.2463G>A, XM_017025171.1:c.2463G>A, XM_017025172.2:c.2361G>A, XM_017025172.1:c.2361G>A, XM_017025173.2:c.2463G>A, XM_017025173.1:c.2463G>A, XM_047436851.1:c.2463G>A, XM_047436852.1:c.2292G>A

Select item 148162652718.

rs1481626527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:38559751 (GRCh38)
17:36715987 (GRCh37)
Canonical SPDI:: NC_000017.11:38559750:C:A
Gene:: SRCIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.38559751C>A, NT_187614.1:g.2595053C>A, NC_000017.10:g.36715987C>A, NM_025248.3:c.1859G>T, NM_025248.2:c.1859G>T, XM_017025169.2:c.1967G>T, XM_017025169.1:c.1967G>T, XM_017025170.2:c.2063G>T, XM_017025170.1:c.2063G>T, XM_017025171.2:c.2063G>T, XM_017025171.1:c.2063G>T, XM_017025172.2:c.1961G>T, XM_017025172.1:c.1961G>T, XM_017025173.2:c.2063G>T, XM_017025173.1:c.2063G>T, XM_047436851.1:c.2063G>T, XM_047436852.1:c.1892G>T, NP_079524.2:p.Ser620Ile, XP_016880658.1:p.Ser656Ile, XP_016880659.1:p.Ser688Ile, XP_016880660.1:p.Ser688Ile, XP_016880661.1:p.Ser654Ile, XP_016880662.1:p.Ser688Ile, XP_047292807.1:p.Ser688Ile, XP_047292808.1:p.Ser631Ile

Select item 148090714619.

rs1480907146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:38562143 (GRCh38)
17:36718379 (GRCh37)
Canonical SPDI:: NC_000017.11:38562142:G:A
Gene:: SRCIN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.38562143G>A, NT_187614.1:g.2597445G>A, NC_000017.10:g.36718379G>A, NM_025248.3:c.1020C>T, NM_025248.2:c.1020C>T, XM_017025169.2:c.1077C>T, XM_017025169.1:c.1077C>T, XM_017025170.2:c.1224C>T, XM_017025170.1:c.1224C>T, XM_017025171.2:c.1224C>T, XM_017025171.1:c.1224C>T, XM_017025172.2:c.1122C>T, XM_017025172.1:c.1122C>T, XM_017025173.2:c.1224C>T, XM_017025173.1:c.1224C>T, XM_047436851.1:c.1224C>T, XM_047436852.1:c.1053C>T

Select item 148042950620.

rs1480429506 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGG>- [Show Flanks]
Chromosome:: 17:38549130 (GRCh38)
17:36705366 (GRCh37)
Canonical SPDI:: NC_000017.11:38549124:GGAGGAGG:GGAGG
Gene:: SRCIN1 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGAGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.38549127AGG[1], NT_187614.1:g.2584429AGG[1], NC_000017.10:g.36705363AGG[1], NW_003315948.2:g.332748AGG[1], NM_025248.3:c.3043TCC[1], NM_025248.2:c.3043TCC[1], XM_017025169.2:c.3151TCC[1], XM_017025169.1:c.3151TCC[1], XM_017025170.2:c.3247TCC[1], XM_017025170.1:c.3247TCC[1], XM_017025171.2:c.3247TCC[1], XM_017025171.1:c.3247TCC[1], XM_017025172.2:c.3145TCC[1], XM_017025172.1:c.3145TCC[1], XM_017025173.2:c.3247TCC[1], XM_017025173.1:c.3247TCC[1], XM_047436851.1:c.3247TCC[1], XM_047436852.1:c.3076TCC[1], NP_079524.2:p.Ser1016del, XP_016880658.1:p.Ser1052del, XP_016880659.1:p.Ser1084del, XP_016880660.1:p.Ser1084del, XP_016880661.1:p.Ser1050del, XP_016880662.1:p.Ser1084del, XP_047292807.1:p.Ser1084del, XP_047292808.1:p.Ser1027del

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