Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197039129T>C , CM000663.2:g.197039129T>C | GRCh38 |
| NC_000001.10:g.197008259T>C , CM000663.1:g.197008259T>C | GRCh37 |
| NC_000001.9:g.195274882T>C | NCBI36 |
| NG_012065.1:g.33139A>G , LRG_550:g.33139A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367412.2:c.*249A>G MANE Select | ENSP00000356382.2:n.*249A>G | |
| ENST00000649282.1:c.990A>G | ENSP00000497116.1:n.990A>G | |
| XM_011509283.2:c.*1170A>G | XP_011507585.1:n.*1170A>G | |
| XM_011509284.2:c.*1170A>G | XP_011507586.1:n.*1170A>G | |
| XM_011509286.2:c.*1170A>G | XP_011507588.1:n.*1170A>G | |
| NM_001994.3:c.*249A>G MANE Select | NP_001985.2:n.*249A>G |