Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78104384A>G , CM000685.2:g.78104384A>G | GRCh38 |
| NC_000023.10:g.77359881A>G , CM000685.1:g.77359881A>G | GRCh37 |
| NC_000023.9:g.77246537A>G | NCBI36 |
| NG_008862.1:g.5216A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.44A>G MANE Select | ENSP00000362413.4:p.Lys15Arg | |
| ENST00000644362.1:c.-19-5483A>G | ENSP00000496140.1:n.-19-5483A>G | |
| ENST00000373316.4:c.44A>G | ENSP00000362413.4:p.Lys15Arg | |
| ENST00000477335.5:n.202-5483A>G | ||
| ENST00000491291.1:n.58-5483A>G | ||
| NM_000291.3:c.44A>G | NP_000282.1:p.Lys15Arg | |
| NM_000291.4:c.44A>G MANE Select | NP_000282.1:p.Lys15Arg |