Linked Data
ClinVar Variation Id:
2399513
ClinVar RCV Id:
RCV002753507
dbSNP Id:
rs773529676
ExAC:
1:8419979 C / T
gnomAD v2:
1-8419979-C-T
gnomAD v4:
1-8359919-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8359919C>T , CM000663.2:g.8359919C>T | GRCh38 |
| NC_000001.10:g.8419979C>T , CM000663.1:g.8419979C>T | GRCh37 |
| NC_000001.9:g.8342566C>T | NCBI36 |
| NG_047035.1:g.462773G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465125.2:c.1801G>A | ENSP00000515651.1:p.Ala601Thr | |
| ENST00000400908.7:c.3463G>A MANE Select | ENSP00000383700.2:p.Ala1155Thr | |
| ENST00000337907.7:c.3463G>A | ENSP00000338629.3:p.Ala1155Thr | |
| ENST00000377464.5:c.2659G>A | ENSP00000366684.1:p.Ala887Thr | |
| ENST00000400907.6:c.1541-4320G>A | ENSP00000383699.2:n.1541-4320G>A | |
| ENST00000400908.6:c.3463G>A | ENSP00000383700.2:p.Ala1155Thr | |
| ENST00000476556.5:c.1801G>A | ENSP00000422246.1:p.Ala601Thr | |
| ENST00000505225.1:c.307+1541G>A | ENSP00000423451.1:n.307+1541G>A | |
| NM_001042681.1:c.3463G>A | NP_001036146.1:p.Ala1155Thr | |
| NM_001042682.1:c.1801G>A | NP_001036147.1:p.Ala601Thr | |
| NM_012102.3:c.3463G>A | NP_036234.3:p.Ala1155Thr | |
| XM_005263464.1:c.3463G>A | XP_005263521.1:p.Ala1155Thr | |
| XM_005263466.1:c.2659G>A | XP_005263523.1:p.Ala887Thr | |
| XM_006710653.1:c.3463G>A | XP_006710716.1:p.Ala1155Thr | |
| XM_011541510.1:c.3337G>A | XP_011539812.1:p.Ala1113Thr | |
| XM_011541511.1:c.3395+193G>A | XP_011539813.1:n.3395+193G>A | |
| XM_005263464.2:c.3463G>A | XP_005263521.1:p.Ala1155Thr | |
| XM_011541510.2:c.3337G>A | XP_011539812.1:p.Ala1113Thr | |
| XM_011541511.2:c.3395+193G>A | XP_011539813.1:n.3395+193G>A | |
| XM_017001358.1:c.3463G>A | XP_016856847.1:p.Ala1155Thr | |
| XM_017001359.1:c.3463G>A | XP_016856848.1:p.Ala1155Thr | |
| NM_001042681.2:c.3463G>A MANE Select | NP_001036146.1:p.Ala1155Thr | |
| NM_001042682.2:c.1801G>A | NP_001036147.1:p.Ala601Thr | |
| NM_012102.4:c.3463G>A | NP_036234.3:p.Ala1155Thr |