Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22125352T>G , CM000663.2:g.22125352T>G | GRCh38 |
| NC_000001.10:g.22451845T>G , CM000663.1:g.22451845T>G | GRCh37 |
| NC_000001.9:g.22324432T>G | NCBI36 |
| NG_008974.1:g.22675A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030761.5:c.314-3776A>C MANE Select | NP_110388.2:n.314-3776A>C |
| ENST00000290167.11:c.314-3776A>C MANE Select | ENSP00000290167.5:n.314-3776A>C |
| NM_030761.4:c.314-3776A>C | NP_110388.2:n.314-3776A>C |
| ENST00000290167.10:c.314-3776A>C | ENSP00000290167.5:n.314-3776A>C |
| XM_011541597.1:c.380-3776A>C | XP_011539899.1:n.380-3776A>C |
| XM_011541597.2:c.380-3776A>C | XP_011539899.1:n.380-3776A>C |
| XM_011541598.1:c.149-3776A>C | XP_011539900.1:n.149-3776A>C |
| XM_011541598.2:c.149-3776A>C | XP_011539900.1:n.149-3776A>C |