Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100643148A>T , CM000669.2:g.100643148A>T | GRCh38 |
| NC_000007.13:g.100240771A>T , CM000669.1:g.100240771A>T | GRCh37 |
| NC_000007.12:g.100078707A>T | NCBI36 |
| NG_007989.1:g.3403T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016188.5:c.*98T>A MANE Select | NP_057272.1:n.*98T>A |
| ENST00000160382.10:c.*98T>A MANE Select | ENSP00000160382.5:n.*98T>A |
| NM_016188.4:c.*98T>A | NP_057272.1:n.*98T>A |
| NR_134539.1:n.1503T>A | |
| NR_134539.2:n.1490T>A | |
| ENST00000160382.9:c.*98T>A | ENSP00000160382.5:n.*98T>A |
| ENST00000487125.1:n.941T>A | |
| XR_927476.1:n.1503T>A |