Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11966985A>C , CM000663.2:g.11966985A>C | GRCh38 |
| NC_000001.10:g.12027042A>C , CM000663.1:g.12027042A>C | GRCh37 |
| NC_000001.9:g.11949629A>C | NCBI36 |
| NG_008159.1:g.37297A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1651-2A>C MANE Select | ENSP00000196061.4:n.1651-2A>C | |
| ENST00000196061.4:c.1651-2A>C | ENSP00000196061.4:n.1651-2A>C | |
| ENST00000491536.5:n.279-2A>C | ||
| NM_000302.3:c.1651-2A>C | NP_000293.2:n.1651-2A>C | |
| NM_001316320.1:c.1792-2A>C | NP_001303249.1:n.1792-2A>C | |
| XM_011541594.1:c.1732-2A>C | XP_011539896.1:n.1732-2A>C | |
| XM_024447707.1:c.985-2A>C | XP_024303475.1:n.985-2A>C | |
| NM_000302.4:c.1651-2A>C MANE Select | NP_000293.2:n.1651-2A>C | |
| NM_001316320.2:c.1792-2A>C | NP_001303249.1:n.1792-2A>C |