Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117837172G>A , CM000670.2:g.117837172G>A | GRCh38 |
| NC_000008.10:g.118849411G>A , CM000670.1:g.118849411G>A | GRCh37 |
| NC_000008.9:g.118918592G>A | NCBI36 |
| NG_007455.2:g.279648C>T , LRG_493:g.279648C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.459C>T | ||
| ENST00000378204.7:c.992C>T MANE Select | ENSP00000367446.3:p.Ala331Val | |
| ENST00000436216.2:c.360C>T | ||
| ENST00000378204.6:c.992C>T | ENSP00000367446.2:p.Ala331Val | |
| ENST00000436216.1:c.360C>T | ||
| ENST00000437196.1:c.74-1621C>T | ENSP00000407299.1:n.74-1621C>T | |
| NM_000127.2:c.992C>T , LRG_493t1:c.992C>T | NP_000118.2:p.Ala331Val | |
| NM_000127.3:c.992C>T MANE Select | NP_000118.2:p.Ala331Val |