Linked Data
ClinVar Variation Id:
773388
ClinVar RCV Id:
RCV000953126
dbSNP Id:
rs773957558
ExAC:
1:8418371 C / T
gnomAD v2:
1-8418371-C-T
gnomAD v3:
1-8358311-C-T
gnomAD v4:
1-8358311-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8358311C>T , CM000663.2:g.8358311C>T | GRCh38 |
| NC_000001.10:g.8418371C>T , CM000663.1:g.8418371C>T | GRCh37 |
| NC_000001.9:g.8340958C>T | NCBI36 |
| NG_047035.1:g.464381G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465125.2:c.2562G>A | ENSP00000515651.1:p.Ser854= | |
| ENST00000400908.7:c.4224G>A MANE Select | ENSP00000383700.2:p.Ser1408= | |
| ENST00000337907.7:c.4224G>A | ENSP00000338629.3:p.Ser1408= | |
| ENST00000377464.5:c.3420G>A | ENSP00000366684.1:p.Ser1140= | |
| ENST00000400907.6:c.1541-2712G>A | ENSP00000383699.2:n.1541-2712G>A | |
| ENST00000400908.6:c.4224G>A | ENSP00000383700.2:p.Ser1408= | |
| ENST00000476556.5:c.2562G>A | ENSP00000422246.1:p.Ser854= | |
| ENST00000505225.1:c.308-2065G>A | ENSP00000423451.1:n.308-2065G>A | |
| NM_001042681.1:c.4224G>A | NP_001036146.1:p.Ser1408= | |
| NM_001042682.1:c.2562G>A | NP_001036147.1:p.Ser854= | |
| NM_012102.3:c.4224G>A | NP_036234.3:p.Ser1408= | |
| XM_005263464.1:c.4224G>A | XP_005263521.1:p.Ser1408= | |
| XM_005263466.1:c.3420G>A | XP_005263523.1:p.Ser1140= | |
| XM_006710653.1:c.4224G>A | XP_006710716.1:p.Ser1408= | |
| XM_011541510.1:c.4098G>A | XP_011539812.1:p.Ser1366= | |
| XM_005263464.2:c.4224G>A | XP_005263521.1:p.Ser1408= | |
| XM_011541510.2:c.4098G>A | XP_011539812.1:p.Ser1366= | |
| XM_017001358.1:c.4224G>A | XP_016856847.1:p.Ser1408= | |
| XM_017001359.1:c.4224G>A | XP_016856848.1:p.Ser1408= | |
| NM_001042681.2:c.4224G>A MANE Select | NP_001036146.1:p.Ser1408= | |
| NM_001042682.2:c.2562G>A | NP_001036147.1:p.Ser854= | |
| NM_012102.4:c.4224G>A | NP_036234.3:p.Ser1408= |