Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722291T>C , CM000668.2:g.42722291T>C | GRCh38 |
| NC_000006.11:g.42690029T>C , CM000668.1:g.42690029T>C | GRCh37 |
| NC_000006.10:g.42798007T>C | NCBI36 |
| NG_009176.1:g.5330A>G | |
| NG_009176.2:g.5330A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000322.5:c.44A>G MANE Select | NP_000313.2:p.Lys15Arg |
| ENST00000230381.7:c.44A>G MANE Select | ENSP00000230381.5:p.Lys15Arg |
| NM_000322.4:c.44A>G | NP_000313.2:p.Lys15Arg |
| ENST00000230381.6:c.44A>G | ENSP00000230381.5:p.Lys15Arg |
| XR_427834.2:n.699A>G | |
| XR_427834.4:n.749A>G | |
| XR_926295.1:n.699A>G | |
| XR_926295.3:n.749A>G |