Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.31400896T>A , CM000667.2:g.31400896T>A | GRCh38 |
| NC_000005.9:g.31401003T>A , CM000667.1:g.31401003T>A | GRCh37 |
| NC_000005.8:g.31436760T>A | NCBI36 |
| NG_051574.1:g.136280A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344624.8:c.*536A>T MANE Select | ENSP00000339845.3:n.*536A>T | |
| ENST00000344624.7:c.*536A>T | ENSP00000339845.3:n.*536A>T | |
| ENST00000442743.5:c.*536A>T | ENSP00000409335.1:n.*536A>T | |
| ENST00000511367.6:c.*536A>T | ENSP00000425979.2:n.*536A>T | |
| NM_001100412.1:c.*536A>T | NP_001093882.1:n.*536A>T | |
| NM_013235.4:c.*536A>T | NP_037367.3:n.*536A>T | |
| NM_001100412.2:c.*536A>T | NP_001093882.1:n.*536A>T | |
| NM_013235.5:c.*536A>T | NP_037367.3:n.*536A>T | |
| NM_001382508.1:c.*536A>T MANE Select | NP_001369437.1:n.*536A>T |