Linked Data
gnomAD v4:
17-80101555-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80101555G>T , CM000679.2:g.80101555G>T | GRCh38 |
| NC_000017.10:g.78075354G>T , CM000679.1:g.78075354G>T | GRCh37 |
| NC_000017.9:g.75689949G>T | NCBI36 |
| NG_009822.1:g.5000G>T , LRG_673:g.5000G>T | |
| NG_029761.1:g.69924G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.-103G>T | ENSP00000460543.2:n.-103G>T | |
| XM_005257194.3:c.-218G>T | XP_005257251.1:n.-218G>T | |
| NM_000152.4:c.-368G>T | NP_000143.2:n.-368G>T | |
| NM_001079803.2:c.-183G>T | NP_001073271.1:n.-183G>T | |
| NM_001079804.2:c.-103G>T | NP_001073272.1:n.-103G>T | |
| NR_134848.1:n.30G>T | ||
| XM_005257194.4:c.-218G>T | XP_005257251.1:n.-218G>T |