Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218890223C>T , CM000664.2:g.218890223C>T | GRCh38 |
| NC_000002.11:g.219754945C>T , CM000664.1:g.219754945C>T | GRCh37 |
| NC_000002.10:g.219463189C>T | NCBI36 |
| NG_012179.1:g.14691C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258411.8:c.616C>T MANE Select | ENSP00000258411.3:p.Gln206Ter | |
| ENST00000258411.7:c.616C>T | ENSP00000258411.3:p.Gln206Ter | |
| ENST00000458582.1:c.264-2551C>T | ||
| NM_025216.2:c.616C>T | NP_079492.2:p.Gln206Ter | |
| XM_011511928.1:c.565C>T | XP_011510230.1:p.Gln189Ter | |
| XM_011511929.1:c.520C>T | XP_011510231.1:p.Gln174Ter | |
| XM_011511930.1:c.377-2551C>T | XP_011510232.1:n.377-2551C>T | |
| XM_011511929.2:c.520C>T | XP_011510231.1:p.Gln174Ter | |
| NM_025216.3:c.616C>T MANE Select | NP_079492.2:p.Gln206Ter |