Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91107478T>C , CM000674.2:g.91107478T>C | GRCh38 |
| NC_000012.11:g.91501255T>C , CM000674.1:g.91501255T>C | GRCh37 |
| NC_000012.10:g.90025386T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266718.5:c.862+640A>G MANE Select | ENSP00000266718.4:n.862+640A>G | |
| ENST00000266718.4:c.862+640A>G | ENSP00000266718.4:n.862+640A>G | |
| ENST00000546642.1:n.612+640A>G | ||
| ENST00000548071.1:n.255+640A>G | ||
| NM_002345.3:c.862+640A>G | NP_002336.1:n.862+640A>G | |
| NM_002345.4:c.862+640A>G MANE Select | NP_002336.1:n.862+640A>G |