Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.38764299T>G , CM000675.2:g.38764299T>G | GRCh38 |
| NC_000013.10:g.39338436T>G , CM000675.1:g.39338436T>G | GRCh37 |
| NC_000013.9:g.38236436T>G | NCBI36 |
| NG_008125.2:g.82264T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207361.6:c.5264-5T>G MANE Select | NP_997244.4:n.5264-5T>G |
| ENST00000280481.9:c.5264-5T>G MANE Select | ENSP00000280481.7:n.5264-5T>G |
| NM_207361.5:c.5264-5T>G | NP_997244.4:n.5264-5T>G |
| ENST00000280481.8:c.5264-5T>G | ENSP00000280481.7:n.5264-5T>G |
| XM_011535057.1:c.5264-5T>G | XP_011533359.1:n.5264-5T>G |
| XR_941571.1:n.5572-5T>G | |
| XR_941571.2:n.5568-5T>G |