Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46381948C>T , CM000664.2:g.46381948C>T | GRCh38 |
| NC_000002.11:g.46609087C>T , CM000664.1:g.46609087C>T | GRCh37 |
| NC_000002.10:g.46462591C>T | NCBI36 |
| NG_016000.1:g.89547C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001430.5:c.2173-27C>T MANE Select | NP_001421.2:n.2173-27C>T |
| ENST00000263734.5:c.2173-27C>T MANE Select | ENSP00000263734.3:n.2173-27C>T |
| NM_001430.4:c.2173-27C>T | NP_001421.2:n.2173-27C>T |
| ENST00000263734.4:c.2173-27C>T | ENSP00000263734.3:n.2173-27C>T |
| ENST00000465318.5:n.547-27C>T | |
| ENST00000466465.5:n.1146-27C>T | |
| ENST00000468530.1:n.89-27C>T | |
| XM_011532698.1:c.2212-27C>T | XP_011531000.1:n.2212-27C>T |
| XM_011532698.2:c.2212-27C>T | XP_011531000.1:n.2212-27C>T |