Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119151250C>G , CM000666.2:g.119151250C>G | GRCh38 |
| NC_000004.11:g.120072405C>G , CM000666.1:g.120072405C>G | GRCh37 |
| NC_000004.10:g.120291853C>G | NCBI36 |
| NG_029747.1:g.20467C>G , LRG_396:g.20467C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016599.5:c.246+209C>G MANE Select | NP_057683.1:n.246+209C>G |
| ENST00000307128.6:c.246+209C>G MANE Select | ENSP00000306997.6:n.246+209C>G |
| NM_016599.4:c.246+209C>G , LRG_396t1:c.246+209C>G | NP_057683.1:n.246+209C>G |
| ENST00000307128.5:c.246+209C>G | ENSP00000306997.5:n.246+209C>G |
| XM_006714234.2:c.246+209C>G | XP_006714297.1:n.246+209C>G |
| XM_006714234.4:c.246+209C>G | XP_006714297.1:n.246+209C>G |