Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128634216C>G , CM000671.2:g.128634216C>G | GRCh38 |
| NC_000009.11:g.131396495C>G , CM000671.1:g.131396495C>G | GRCh37 |
| NC_000009.10:g.130436316C>G | NCBI36 |
| NG_027748.1:g.86659C>G | |
| NG_034056.1:g.27635G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372715.7:c.1372+10G>C MANE Select | ENSP00000361800.2:n.1372+10G>C | |
| ENST00000372715.6:c.1372+10G>C | ENSP00000361800.2:n.1372+10G>C | |
| NM_052844.3:c.1372+10G>C | NP_443076.2:n.1372+10G>C | |
| XM_011519179.1:c.1288+10G>C | XP_011517481.1:n.1288+10G>C | |
| XM_011519179.2:c.1288+10G>C | XP_011517481.1:n.1288+10G>C | |
| NM_052844.4:c.1372+10G>C MANE Select | NP_443076.2:n.1372+10G>C |