Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118110174G>T , CM000670.2:g.118110174G>T | GRCh38 |
| NC_000008.10:g.119122413G>T , CM000670.1:g.119122413G>T | GRCh37 |
| NC_000008.9:g.119191594G>T | NCBI36 |
| NG_007455.2:g.6646C>A , LRG_493:g.6646C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000127.3:c.873C>A MANE Select | NP_000118.2:p.Asp291Glu |
| ENST00000378204.7:c.873C>A MANE Select | ENSP00000367446.3:p.Asp291Glu |
| NM_000127.2:c.873C>A , LRG_493t1:c.873C>A | NP_000118.2:p.Asp291Glu |
| ENST00000378204.6:c.873C>A | ENSP00000367446.2:p.Asp291Glu |
| ENST00000436216.1:c.241C>A | |
| ENST00000436216.2:c.241C>A | |
| ENST00000437196.1:c.73+800C>A | ENSP00000407299.1:n.73+800C>A |