Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101586030C>G , CM000671.2:g.101586030C>G | GRCh38 |
| NC_000009.11:g.104348312C>G , CM000671.1:g.104348312C>G | GRCh37 |
| NC_000009.10:g.103388133C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361820.6:c.2767-6670G>C MANE Select | ENSP00000355155.3:n.2767-6670G>C | |
| ENST00000361820.3:c.2767-6670G>C | ENSP00000355155.3:n.2767-6670G>C | |
| NM_133445.2:c.2767-6670G>C | NP_597702.2:n.2767-6670G>C | |
| NM_133445.3:c.2767-6670G>C MANE Select | NP_597702.2:n.2767-6670G>C |