Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155812203C>A , CM000669.2:g.155812203C>A | GRCh38 |
| NC_000007.13:g.155604897C>A , CM000669.1:g.155604897C>A | GRCh37 |
| NC_000007.12:g.155297658C>A | NCBI36 |
| NG_007504.2:g.5071G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297261.7:c.-81G>T MANE Select | ENSP00000297261.2:n.-81G>T | |
| ENST00000297261.6:c.-81G>T | ENSP00000297261.2:n.-81G>T | |
| NM_000193.2:c.-81G>T | NP_000184.1:n.-81G>T | |
| NM_000193.3:c.-81G>T | NP_000184.1:n.-81G>T | |
| NM_000193.4:c.-81G>T MANE Select | NP_000184.1:n.-81G>T |