Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44942058T>A , CM000664.2:g.44942058T>A | GRCh38 |
| NC_000002.11:g.45169197T>A , CM000664.1:g.45169197T>A | GRCh37 |
| NC_000002.10:g.45022701T>A | NCBI36 |
| NG_016222.1:g.5161T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260653.5:c.-47T>A MANE Select | ENSP00000260653.3:n.-47T>A | |
| ENST00000260653.4:c.-47T>A | ENSP00000260653.3:n.-47T>A | |
| NM_005413.3:c.-47T>A | NP_005404.1:n.-47T>A | |
| XM_011533042.1:c.-47T>A | XP_011531344.1:n.-47T>A | |
| NM_005413.4:c.-47T>A MANE Select | NP_005404.1:n.-47T>A |