Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24952543C>T , CM000670.2:g.24952543C>T | GRCh38 |
| NC_000008.10:g.24810056C>T , CM000670.1:g.24810056C>T | GRCh37 |
| NC_000008.9:g.24865973C>T | NCBI36 |
| NG_008492.1:g.9075G>A , LRG_259:g.9075G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000610854.2:c.*267G>A MANE Select | ENSP00000482169.2:n.*267G>A | |
| ENST00000610854.1:c.*267G>A | ENSP00000482169.1:n.*267G>A | |
| ENST00000619417.1:c.*764G>A | ENSP00000483690.1:n.*764G>A | |
| NM_006158.4:c.*267G>A , LRG_259t1:c.*267G>A | NP_006149.2:n.*267G>A | |
| NM_006158.5:c.*267G>A MANE Select | NP_006149.2:n.*267G>A |