Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46103850T>G , CM000666.2:g.46103850T>G | GRCh38 |
| NC_000004.11:g.46105867T>G , CM000666.1:g.46105867T>G | GRCh37 |
| NC_000004.10:g.45800624T>G | NCBI36 |
| NG_046964.1:g.25216A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173536.4:c.105-6501A>C MANE Select | NP_775807.2:n.105-6501A>C |
| ENST00000295452.5:c.105-6501A>C MANE Select | ENSP00000295452.4:n.105-6501A>C |
| NM_173536.3:c.105-6501A>C | NP_775807.2:n.105-6501A>C |
| ENST00000295452.4:c.105-6501A>C | ENSP00000295452.4:n.105-6501A>C |