Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145916830G>A , CM000663.2:g.145916830G>A | GRCh38 |
| NC_000001.10:g.145518259C>T , CM000663.1:g.145518259C>T | GRCh37 |
| NC_000001.9:g.144229616C>T | NCBI36 |
| NG_032654.2:g.15707C>T , LRG_574:g.15707C>T | |
| NG_033000.3:g.7095C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003846.3:c.361C>T MANE Select | NP_003837.1:p.Gln121Ter |
| ENST00000369306.8:c.361C>T MANE Select | ENSP00000358312.3:p.Gln121Ter |
| NM_001184795.1:c.319C>T | NP_001171724.1:p.Gln107Ter |
| NM_003846.2:c.361C>T | NP_003837.1:p.Gln121Ter |
| NR_073491.1:n.593C>T | |
| NR_073491.2:n.386C>T | |
| NR_073492.1:n.587C>T | |
| NR_073492.2:n.380C>T | |
| NR_073493.2:n.809C>T | |
| ENST00000369306.7:c.361C>T | ENSP00000358312.3:p.Gln121Ter |
| ENST00000537888.1:c.319C>T | ENSP00000437510.1:p.Gln107Ter |