Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18019049T>A , CM000673.2:g.18019049T>A | GRCh38 |
| NC_000011.9:g.18040596T>A , CM000673.1:g.18040596T>A | GRCh37 |
| NC_000011.8:g.17997172T>A | NCBI36 |
| NG_011947.1:g.26740A>T | |
| NG_011947.2:g.26740A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004179.3:c.*1942A>T MANE Select | NP_004170.1:n.*1942A>T |
| ENST00000682019.1:c.*1942A>T MANE Select | ENSP00000508368.1:n.*1942A>T |
| ENST00000250018.6:c.*1942A>T | ENSP00000250018.2:n.*1942A>T |