Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91107431C>G , CM000674.2:g.91107431C>G | GRCh38 |
| NC_000012.11:g.91501208C>G , CM000674.1:g.91501208C>G | GRCh37 |
| NC_000012.10:g.90025339C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266718.5:c.862+687G>C MANE Select | ENSP00000266718.4:n.862+687G>C | |
| ENST00000266718.4:c.862+687G>C | ENSP00000266718.4:n.862+687G>C | |
| ENST00000546642.1:n.612+687G>C | ||
| ENST00000548071.1:n.255+687G>C | ||
| NM_002345.3:c.862+687G>C | NP_002336.1:n.862+687G>C | |
| NM_002345.4:c.862+687G>C MANE Select | NP_002336.1:n.862+687G>C |