Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46399308A>G , CM000663.2:g.46399308A>G | GRCh38 |
| NC_000001.10:g.46864980A>G , CM000663.1:g.46864980A>G | GRCh37 |
| NC_000001.9:g.46637567A>G | NCBI36 |
| NG_012195.1:g.10042A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243167.9:c.196-2783A>G MANE Select | ENSP00000243167.8:n.196-2783A>G | |
| ENST00000243167.8:c.196-2783A>G | ENSP00000243167.8:n.196-2783A>G | |
| ENST00000468718.5:n.216-2783A>G | ||
| ENST00000493735.5:n.174-2783A>G | ||
| NM_001441.2:c.196-2783A>G | NP_001432.2:n.196-2783A>G | |
| NM_001441.3:c.196-2783A>G MANE Select | NP_001432.2:n.196-2783A>G |