Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118110447C>T , CM000670.2:g.118110447C>T | GRCh38 |
| NC_000008.10:g.119122686C>T , CM000670.1:g.119122686C>T | GRCh37 |
| NC_000008.9:g.119191867C>T | NCBI36 |
| NG_007455.2:g.6373G>A , LRG_493:g.6373G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000127.3:c.600G>A MANE Select | NP_000118.2:p.Trp200Ter |
| ENST00000378204.7:c.600G>A MANE Select | ENSP00000367446.3:p.Trp200Ter |
| NM_000127.2:c.600G>A , LRG_493t1:c.600G>A | NP_000118.2:p.Trp200Ter |
| ENST00000378204.6:c.600G>A | ENSP00000367446.2:p.Trp200Ter |
| ENST00000437196.1:c.73+527G>A | ENSP00000407299.1:n.73+527G>A |