Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442423G>C , CM000666.2:g.177442423G>C | GRCh38 |
| NC_000004.11:g.178363577G>C , CM000666.1:g.178363577G>C | GRCh37 |
| NC_000004.10:g.178600571G>C | NCBI36 |
| NG_011845.2:g.5081C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.-48C>G MANE Select | ENSP00000264595.2:n.-48C>G | |
| ENST00000264595.6:c.-48C>G | ENSP00000264595.2:n.-48C>G | |
| NM_000027.3:c.-48C>G | NP_000018.2:n.-48C>G | |
| NM_001171988.1:c.-48C>G | NP_001165459.1:n.-48C>G | |
| NR_033655.1:n.81C>G | ||
| XM_006714123.2:c.-48C>G | XP_006714186.1:n.-48C>G | |
| XR_001741155.2:n.47C>G | ||
| NM_000027.4:c.-48C>G MANE Select | NP_000018.2:n.-48C>G | |
| NM_001171988.2:c.-48C>G | NP_001165459.1:n.-48C>G | |
| NR_033655.2:n.15C>G |