Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155812261C>G , CM000669.2:g.155812261C>G | GRCh38 |
| NC_000007.13:g.155604955C>G , CM000669.1:g.155604955C>G | GRCh37 |
| NC_000007.12:g.155297716C>G | NCBI36 |
| NG_007504.2:g.5013G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297261.7:c.-139G>C MANE Select | ENSP00000297261.2:n.-139G>C | |
| ENST00000297261.6:c.-139G>C | ENSP00000297261.2:n.-139G>C | |
| NM_000193.2:c.-139G>C | NP_000184.1:n.-139G>C | |
| NM_000193.3:c.-139G>C | NP_000184.1:n.-139G>C | |
| NM_000193.4:c.-139G>C MANE Select | NP_000184.1:n.-139G>C |