Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190361T>C , CM000663.2:g.204190361T>C | GRCh38 |
| NC_000001.10:g.204159489T>C , CM000663.1:g.204159489T>C | GRCh37 |
| NC_000001.9:g.202426112T>C | NCBI36 |
| NG_032151.1:g.11131A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*123A>G MANE Select | ENSP00000356162.4:n.*123A>G | |
| ENST00000367194.4:c.*123A>G | ENSP00000356162.4:n.*123A>G | |
| NM_002256.3:c.*123A>G | NP_002247.3:n.*123A>G | |
| XM_011509525.1:c.*123A>G | XP_011507827.1:n.*123A>G | |
| NM_002256.4:c.*123A>G MANE Select | NP_002247.3:n.*123A>G |