Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118110410G>A , CM000670.2:g.118110410G>A | GRCh38 |
| NC_000008.10:g.119122649G>A , CM000670.1:g.119122649G>A | GRCh37 |
| NC_000008.9:g.119191830G>A | NCBI36 |
| NG_007455.2:g.6410C>T , LRG_493:g.6410C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000127.3:c.637C>T MANE Select | NP_000118.2:p.Gln213Ter |
| ENST00000378204.7:c.637C>T MANE Select | ENSP00000367446.3:p.Gln213Ter |
| NM_000127.2:c.637C>T , LRG_493t1:c.637C>T | NP_000118.2:p.Gln213Ter |
| ENST00000378204.6:c.637C>T | ENSP00000367446.2:p.Gln213Ter |
| ENST00000436216.1:c.5C>T | |
| ENST00000436216.2:c.5C>T | |
| ENST00000437196.1:c.73+564C>T | ENSP00000407299.1:n.73+564C>T |