Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146339508T>G , CM000667.2:g.146339508T>G | GRCh38 |
| NC_000005.9:g.145719071T>G , CM000667.1:g.145719071T>G | GRCh37 |
| NC_000005.8:g.145699264T>G | NCBI36 |
| NG_011885.1:g.5485T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.121-40T>G MANE Select | ENSP00000495718.1:n.121-40T>G | |
| ENST00000230732.4:c.121-40T>G | ENSP00000230732.4:n.121-40T>G | |
| NM_002700.2:c.121-40T>G | NP_002691.1:n.121-40T>G | |
| NM_002700.3:c.121-40T>G MANE Select | NP_002691.1:n.121-40T>G |