Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442408G>C , CM000666.2:g.177442408G>C | GRCh38 |
| NC_000004.11:g.178363562G>C , CM000666.1:g.178363562G>C | GRCh37 |
| NC_000004.10:g.178600556G>C | NCBI36 |
| NG_011845.2:g.5096C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.-33C>G MANE Select | ENSP00000264595.2:n.-33C>G | |
| ENST00000264595.6:c.-33C>G | ENSP00000264595.2:n.-33C>G | |
| ENST00000506853.5:n.2C>G | ||
| ENST00000510955.5:n.2C>G | ||
| ENST00000511231.1:n.2C>G | ||
| NM_000027.3:c.-33C>G | NP_000018.2:n.-33C>G | |
| NM_001171988.1:c.-33C>G | NP_001165459.1:n.-33C>G | |
| NR_033655.1:n.96C>G | ||
| XM_006714123.2:c.-33C>G | XP_006714186.1:n.-33C>G | |
| XR_001741155.2:n.62C>G | ||
| NM_000027.4:c.-33C>G MANE Select | NP_000018.2:n.-33C>G | |
| NM_001171988.2:c.-33C>G | NP_001165459.1:n.-33C>G | |
| NR_033655.2:n.30C>G |