Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117818443C>A , CM000670.2:g.117818443C>A | GRCh38 |
| NC_000008.10:g.118830682C>A , CM000670.1:g.118830682C>A | GRCh37 |
| NC_000008.9:g.118899863C>A | NCBI36 |
| NG_007455.2:g.298377G>T , LRG_493:g.298377G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000127.3:c.1624G>T MANE Select | NP_000118.2:p.Glu542Ter |
| ENST00000378204.7:c.1624G>T MANE Select | ENSP00000367446.3:p.Glu542Ter |
| NM_000127.2:c.1624G>T , LRG_493t1:c.1624G>T | NP_000118.2:p.Glu542Ter |
| ENST00000378204.6:c.1624G>T | ENSP00000367446.2:p.Glu542Ter |
| ENST00000437196.1:c.*515G>T | ENSP00000407299.1:n.*515G>T |
| ENST00000684189.1:n.1091G>T |