Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.38309011C>G , CM000682.2:g.38309011C>G | GRCh38 |
| NC_000020.10:g.36937413C>G , CM000682.1:g.36937413C>G | GRCh37 |
| NC_000020.9:g.36370827C>G | NCBI36 |
| NG_047016.1:g.9862C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001725.3:c.327C>G MANE Select | NP_001716.3:p.Asn109Lys |
| ENST00000642449.2:c.327C>G MANE Select | ENSP00000494528.2:p.Asn109Lys |
| NM_001725.2:c.339C>G | NP_001716.2:p.Asn113Lys |
| ENST00000262865.8:c.339C>G | ENSP00000262865.4:p.Asn113Lys |
| ENST00000262865.9:c.339C>G | ENSP00000262865.4:p.Asn113Lys |
| XM_005260522.2:c.339C>G | XP_005260579.1:p.Asn113Lys |
| XR_430313.2:n.368C>G | |
| XR_936707.1:n.135+8414G>C | |
| XR_936708.1:n.135+8414G>C |