Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117822566G>T , CM000670.2:g.117822566G>T | GRCh38 |
| NC_000008.10:g.118834805G>T , CM000670.1:g.118834805G>T | GRCh37 |
| NC_000008.9:g.118903986G>T | NCBI36 |
| NG_007455.2:g.294254C>A , LRG_493:g.294254C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000127.3:c.1316C>A MANE Select | NP_000118.2:p.Ser439Ter |
| ENST00000378204.7:c.1316C>A MANE Select | ENSP00000367446.3:p.Ser439Ter |
| NM_000127.2:c.1316C>A , LRG_493t1:c.1316C>A | NP_000118.2:p.Ser439Ter |
| ENST00000378204.6:c.1316C>A | ENSP00000367446.2:p.Ser439Ter |
| ENST00000436216.2:c.739C>A | |
| ENST00000437196.1:c.*207C>A | ENSP00000407299.1:n.*207C>A |
| ENST00000684189.1:n.783C>A |