Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117818517C>T , CM000670.2:g.117818517C>T | GRCh38 |
| NC_000008.10:g.118830756C>T , CM000670.1:g.118830756C>T | GRCh37 |
| NC_000008.9:g.118899937C>T | NCBI36 |
| NG_007455.2:g.298303G>A , LRG_493:g.298303G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000127.3:c.1550G>A MANE Select | NP_000118.2:p.Trp517Ter |
| ENST00000378204.7:c.1550G>A MANE Select | ENSP00000367446.3:p.Trp517Ter |
| NM_000127.2:c.1550G>A , LRG_493t1:c.1550G>A | NP_000118.2:p.Trp517Ter |
| ENST00000378204.6:c.1550G>A | ENSP00000367446.2:p.Trp517Ter |
| ENST00000437196.1:c.*441G>A | ENSP00000407299.1:n.*441G>A |
| ENST00000684189.1:n.1017G>A |