Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111288G>A , CM000670.2:g.118111288G>A | GRCh38 |
| NC_000008.10:g.119123527G>A , CM000670.1:g.119123527G>A | GRCh37 |
| NC_000008.9:g.119192708G>A | NCBI36 |
| NG_007455.2:g.5532C>T , LRG_493:g.5532C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-242C>T MANE Select | ENSP00000367446.3:n.-242C>T | |
| ENST00000378204.6:c.-242C>T | ENSP00000367446.2:n.-242C>T | |
| ENST00000437196.1:c.-242C>T | ENSP00000407299.1:n.-242C>T | |
| NM_000127.2:c.-242C>T , LRG_493t1:c.-242C>T | NP_000118.2:n.-242C>T | |
| NM_000127.3:c.-242C>T MANE Select | NP_000118.2:n.-242C>T |