Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145878403T>C , CM000663.2:g.145878403T>C | GRCh38 |
| NC_000001.10:g.145556677A>G , CM000663.1:g.145556677A>G | GRCh37 |
| NC_000001.9:g.144268034A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144698.5:c.247A>G MANE Select | NP_653299.4:p.Lys83Glu |
| ENST00000355594.9:c.247A>G MANE Select | ENSP00000347802.4:p.Lys83Glu |
| NM_001280799.1:c.34-415A>G | NP_001267728.1:n.34-415A>G |
| NM_001280799.2:c.34-415A>G | NP_001267728.1:n.34-415A>G |
| NM_144698.4:c.247A>G | NP_653299.4:p.Lys83Glu |
| ENST00000355594.8:c.247A>G | ENSP00000347802.4:p.Lys83Glu |
| ENST00000544626.2:c.34-415A>G | ENSP00000442671.2:n.34-415A>G |