Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111551G>A , CM000670.2:g.118111551G>A | GRCh38 |
| NC_000008.10:g.119123790G>A , CM000670.1:g.119123790G>A | GRCh37 |
| NC_000008.9:g.119192971G>A | NCBI36 |
| NG_007455.2:g.5269C>T , LRG_493:g.5269C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-505C>T MANE Select | ENSP00000367446.3:n.-505C>T | |
| ENST00000378204.6:c.-505C>T | ENSP00000367446.2:n.-505C>T | |
| NM_000127.2:c.-505C>T , LRG_493t1:c.-505C>T | NP_000118.2:n.-505C>T | |
| NM_000127.3:c.-505C>T MANE Select | NP_000118.2:n.-505C>T |