Linked Data
ClinVar Variation Id:
167843
ClinVar RCV Id:
RCV000154140
RCV000317115
RCV000278329
RCV000723861
RCV001083264
RCV002277304
RCV002516102
RCV004532742
dbSNP Id:
rs187546086
ExAC:
4:39254828 A / C
gnomAD v2:
4-39254828-A-C
gnomAD v3:
4-39253208-A-C
gnomAD v4:
4-39253208-A-C
COSMIC:
COSM1193133
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39253208A>C , CM000666.2:g.39253208A>C | GRCh38 |
| NC_000004.11:g.39254828A>C , CM000666.1:g.39254828A>C | GRCh37 |
| NC_000004.10:g.38931223A>C | NCBI36 |
| NG_031813.1:g.75805A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.2792A>C MANE Select | ENSP00000382717.3:p.Tyr931Ser | |
| ENST00000399820.7:c.2792A>C | ENSP00000382717.3:p.Tyr931Ser | |
| ENST00000506869.5:c.*2373A>C | ENSP00000424319.1:n.*2373A>C | |
| ENST00000512095.5:n.1790A>C | ||
| NM_025132.3:c.2792A>C | NP_079408.3:p.Tyr931Ser | |
| XM_011513724.1:c.2804A>C | XP_011512026.1:p.Tyr935Ser | |
| XM_011513725.1:c.2738A>C | XP_011512027.1:p.Tyr913Ser | |
| XM_011513726.1:c.2324A>C | XP_011512028.1:p.Tyr775Ser | |
| XM_011513727.1:c.2324A>C | XP_011512029.1:p.Tyr775Ser | |
| XM_011513728.1:c.2312A>C | XP_011512030.1:p.Tyr771Ser | |
| XM_011513729.1:c.2804A>C | XP_011512031.1:p.Tyr935Ser | |
| XR_925155.1:n.2868A>C | ||
| NM_001317924.1:c.2312A>C | NP_001304853.1:p.Tyr771Ser | |
| XM_011513725.2:c.2738A>C | XP_011512027.1:p.Tyr913Ser | |
| XM_011513726.3:c.2324A>C | XP_011512028.1:p.Tyr775Ser | |
| XM_017008501.1:c.2312A>C | XP_016863990.1:p.Tyr771Ser | |
| XR_001741306.1:n.2868A>C | ||
| XR_001741307.1:n.2856A>C | ||
| XR_001741308.1:n.2868A>C | ||
| XR_001741309.1:n.2856A>C | ||
| XR_001741310.1:n.2856A>C | ||
| XR_001741311.2:n.2705A>C | ||
| NM_025132.4:c.2792A>C MANE Select | NP_079408.3:p.Tyr931Ser | |
| NM_001317924.2:c.2312A>C | NP_001304853.1:p.Tyr771Ser |