Linked Data
gnomAD v4:
17-43952781-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43952781A>T , CM000679.2:g.43952781A>T | GRCh38 |
| NC_000017.10:g.42030149A>T , CM000679.1:g.42030149A>T | GRCh37 |
| NC_000017.9:g.39385675A>T | NCBI36 |
| NG_023338.1:g.56689T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592796.2:c.*324T>A | ENSP00000467310.1:n.*324T>A | |
| ENST00000692052.1:c.*175T>A MANE Select | ENSP00000509262.1:n.*175T>A | |
| ENST00000360085.6:c.*175T>A | ENSP00000353198.1:n.*175T>A | |
| NM_004160.4:c.*175T>A | NP_004151.3:n.*175T>A | |
| XM_011525035.1:c.*175T>A | XP_011523337.1:n.*175T>A | |
| NM_004160.5:c.*175T>A | NP_004151.3:n.*175T>A | |
| NM_001394028.1:c.*175T>A MANE Select | NP_001380957.1:n.*175T>A | |
| NM_001394029.1:c.*324T>A | NP_001380958.1:n.*324T>A | |
| NM_004160.6:c.*175T>A | NP_004151.4:n.*175T>A |