Linked Data
ClinVar Variation Id:
793933
ClinVar RCV Id:
RCV001429250
dbSNP Id:
rs769733906
ExAC:
1:151783920 G / A
gnomAD v2:
1-151783920-G-A
gnomAD v4:
1-151811444-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151811444G>A , CM000663.2:g.151811444G>A | GRCh38 |
| NC_000001.10:g.151783920G>A , CM000663.1:g.151783920G>A | GRCh37 |
| NC_000001.9:g.150050544G>A | NCBI36 |
| NG_029118.1:g.25429C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652040.2:c.1001-10C>T | ENSP00000498548.2:n.1001-10C>T | |
| ENST00000697811.1:c.934-10C>T | ENSP00000513447.1:n.934-10C>T | |
| ENST00000318247.7:c.1286-10C>T MANE Select | ENSP00000327025.6:n.1286-10C>T | |
| ENST00000356728.11:c.1223-10C>T | ENSP00000349164.6:n.1223-10C>T | |
| ENST00000638901.1:c.1477-10C>T | ||
| ENST00000651814.1:c.*243-10C>T | ENSP00000498691.1:n.*243-10C>T | |
| ENST00000651893.1:c.563-10C>T | ||
| ENST00000318247.6:c.1286-10C>T | ENSP00000327025.6:n.1286-10C>T | |
| ENST00000356728.10:c.1223-10C>T | ENSP00000349164.6:n.1223-10C>T | |
| ENST00000480719.1:n.3346C>T | ||
| NM_001001523.1:c.1223-10C>T | NP_001001523.1:n.1223-10C>T | |
| NM_005060.3:c.1286-10C>T | NP_005051.2:n.1286-10C>T | |
| XM_006711484.2:c.1685-10C>T | XP_006711547.2:n.1685-10C>T | |
| XR_426792.2:n.2047-10C>T | ||
| XM_006711484.4:c.1685-10C>T | XP_006711547.2:n.1685-10C>T | |
| NM_005060.4:c.1286-10C>T MANE Select | NP_005051.2:n.1286-10C>T | |
| NM_001001523.2:c.1223-10C>T | NP_001001523.1:n.1223-10C>T |