Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353563A>G , CM000674.2:g.69353563A>G | GRCh38 |
| NC_000012.11:g.69747343A>G , CM000674.1:g.69747343A>G | GRCh37 |
| NC_000012.10:g.68033610A>G | NCBI36 |
| NG_008195.1:g.10210A>G , LRG_768:g.10210A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*344A>G MANE Select | ENSP00000261267.2:n.*344A>G | |
| ENST00000261267.6:c.*344A>G | ENSP00000261267.2:n.*344A>G | |
| NM_000239.2:c.*344A>G , LRG_768t1:c.*344A>G | NP_000230.1:n.*344A>G | |
| NM_000239.3:c.*344A>G MANE Select | NP_000230.1:n.*344A>G |