Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121847011T>A , CM000674.2:g.121847011T>A | GRCh38 |
| NC_000012.11:g.122284917T>A , CM000674.1:g.122284917T>A | GRCh37 |
| NC_000012.10:g.120769300T>A | NCBI36 |
| NG_016461.1:g.46601A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289004.8:c.759+41A>T MANE Select | ENSP00000289004.4:n.759+41A>T | |
| ENST00000543163.5:c.642+41A>T | ENSP00000441677.1:n.642+41A>T | |
| NM_001171993.1:c.642+41A>T | NP_001165464.1:n.642+41A>T | |
| NM_002150.2:c.759+41A>T | NP_002141.1:n.759+41A>T | |
| NM_002150.3:c.759+41A>T MANE Select | NP_002141.2:n.759+41A>T | |
| NM_001171993.2:c.642+41A>T | NP_001165464.1:n.642+41A>T |