Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117818480C>T , CM000670.2:g.117818480C>T | GRCh38 |
| NC_000008.10:g.118830719C>T , CM000670.1:g.118830719C>T | GRCh37 |
| NC_000008.9:g.118899900C>T | NCBI36 |
| NG_007455.2:g.298340G>A , LRG_493:g.298340G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000127.3:c.1587G>A MANE Select | NP_000118.2:p.Trp529Ter |
| ENST00000378204.7:c.1587G>A MANE Select | ENSP00000367446.3:p.Trp529Ter |
| NM_000127.2:c.1587G>A , LRG_493t1:c.1587G>A | NP_000118.2:p.Trp529Ter |
| ENST00000378204.6:c.1587G>A | ENSP00000367446.2:p.Trp529Ter |
| ENST00000437196.1:c.*478G>A | ENSP00000407299.1:n.*478G>A |
| ENST00000684189.1:n.1054G>A |