Linked Data
dbSNP Id:
rs911519006
gnomAD v2:
17-78075355-A-T
gnomAD v3:
17-80101556-A-T
gnomAD v4:
17-80101556-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80101556A>T , CM000679.2:g.80101556A>T | GRCh38 |
| NC_000017.10:g.78075355A>T , CM000679.1:g.78075355A>T | GRCh37 |
| NC_000017.9:g.75689950A>T | NCBI36 |
| NG_009822.1:g.5001A>T , LRG_673:g.5001A>T | |
| NG_029761.1:g.69925A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.-102A>T | ENSP00000460543.2:n.-102A>T | |
| ENST00000570803.5:c.-102A>T | ENSP00000460543.1:n.-102A>T | |
| NM_000152.3:c.-367A>T , LRG_673t1:c.-367A>T | NP_000143.2:n.-367A>T | |
| NM_001079803.1:c.-182A>T | NP_001073271.1:n.-182A>T | |
| NM_001079804.1:c.-102A>T | NP_001073272.1:n.-102A>T | |
| XM_005257194.3:c.-217A>T | XP_005257251.1:n.-217A>T | |
| NM_000152.4:c.-367A>T | NP_000143.2:n.-367A>T | |
| NM_001079803.2:c.-182A>T | NP_001073271.1:n.-182A>T | |
| NM_001079804.2:c.-102A>T | NP_001073272.1:n.-102A>T | |
| NR_134848.1:n.31A>T | ||
| XM_005257194.4:c.-217A>T | XP_005257251.1:n.-217A>T |