Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45910184G>C , CM000673.2:g.45910184G>C | GRCh38 |
| NC_000011.9:g.45931735G>C , CM000673.1:g.45931735G>C | GRCh37 |
| NC_000011.8:g.45888311G>C | NCBI36 |
| NG_008460.1:g.12940C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004813.4:c.*70C>G MANE Select | NP_004804.2:n.*70C>G |
| ENST00000378750.10:c.*70C>G MANE Select | ENSP00000368024.5:n.*70C>G |
| NM_004813.2:c.*70C>G | NP_004804.1:n.*70C>G |
| NM_004813.3:c.*70C>G | NP_004804.1:n.*70C>G |
| NM_057174.2:c.953-7C>G | NP_476515.1:n.953-7C>G |
| NM_057174.3:c.953-7C>G | NP_476515.2:n.953-7C>G |
| ENST00000241041.7:c.953-7C>G | ENSP00000241041.3:n.953-7C>G |
| ENST00000378750.9:c.*70C>G | ENSP00000368024.5:n.*70C>G |
| ENST00000523721.2:n.311C>G | |
| XM_011520474.1:c.*70C>G | XP_011518776.1:n.*70C>G |