Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353537G>T , CM000674.2:g.69353537G>T | GRCh38 |
| NC_000012.11:g.69747317G>T , CM000674.1:g.69747317G>T | GRCh37 |
| NC_000012.10:g.68033584G>T | NCBI36 |
| NG_008195.1:g.10184G>T , LRG_768:g.10184G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*318G>T MANE Select | ENSP00000261267.2:n.*318G>T | |
| ENST00000261267.6:c.*318G>T | ENSP00000261267.2:n.*318G>T | |
| NM_000239.2:c.*318G>T , LRG_768t1:c.*318G>T | NP_000230.1:n.*318G>T | |
| NM_000239.3:c.*318G>T MANE Select | NP_000230.1:n.*318G>T |