Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151876882G>A , CM000669.2:g.151876882G>A | GRCh38 |
| NC_000007.13:g.151573967G>A , CM000669.1:g.151573967G>A | GRCh37 |
| NC_000007.12:g.151204900G>A | NCBI36 |
| NG_007486.1:g.5350C>T | |
| NG_007486.2:g.5350C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652321.2:c.-262C>T | ENSP00000498886.2:n.-262C>T | |
| ENST00000287878.9:c.-262C>T MANE Select | ENSP00000287878.3:n.-262C>T | |
| ENST00000652321.1:c.-262C>T | ENSP00000498886.1:n.-262C>T | |
| ENST00000287878.8:c.-262C>T | ENSP00000287878.3:n.-262C>T | |
| ENST00000481434.5:n.244C>T | ||
| NM_016203.3:c.-262C>T | NP_057287.2:n.-262C>T | |
| NM_016203.4:c.-262C>T MANE Select | NP_057287.2:n.-262C>T |