Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353300T>G , CM000674.2:g.69353300T>G | GRCh38 |
| NC_000012.11:g.69747080T>G , CM000674.1:g.69747080T>G | GRCh37 |
| NC_000012.10:g.68033347T>G | NCBI36 |
| NG_008195.1:g.9947T>G , LRG_768:g.9947T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*81T>G MANE Select | ENSP00000261267.2:n.*81T>G | |
| ENST00000261267.6:c.*81T>G | ENSP00000261267.2:n.*81T>G | |
| ENST00000549690.1:c.*35T>G | ENSP00000449898.1:n.*35T>G | |
| NM_000239.2:c.*81T>G , LRG_768t1:c.*81T>G | NP_000230.1:n.*81T>G | |
| NM_000239.3:c.*81T>G MANE Select | NP_000230.1:n.*81T>G |