Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89218694C>G , CM000677.2:g.89218694C>G | GRCh38 |
| NC_000015.9:g.89761925C>G , CM000677.1:g.89761925C>G | GRCh37 |
| NC_000015.8:g.87562929C>G | NCBI36 |
| NG_008116.1:g.7998G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000326.5:c.13-1G>C MANE Select | NP_000317.1:n.13-1G>C |
| ENST00000268125.10:c.13-1G>C MANE Select | ENSP00000268125.5:n.13-1G>C |
| NM_000326.4:c.13-1G>C | NP_000317.1:n.13-1G>C |
| ENST00000268125.9:c.13-1G>C | ENSP00000268125.5:n.13-1G>C |
| ENST00000567787.1:c.13-1G>C | ENSP00000457251.1:n.13-1G>C |
| XM_011521870.1:c.13-1G>C | XP_011520172.1:n.13-1G>C |
| XM_011521870.2:c.13-1G>C | XP_011520172.1:n.13-1G>C |
| XM_017022460.1:c.39G>C | XP_016877949.1:p.Gln13His |