Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34834351A>G , CM000668.2:g.34834351A>G | GRCh38 |
| NC_000006.11:g.34802128A>G , CM000668.1:g.34802128A>G | GRCh37 |
| NC_000006.10:g.34910106A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000192788.6:c.473A>G MANE Select | ENSP00000192788.5:p.Asn158Ser | |
| ENST00000192788.5:c.473A>G | ENSP00000192788.5:p.Asn158Ser | |
| ENST00000452449.6:c.473A>G | ENSP00000400628.2:p.Asn158Ser | |
| NM_017754.3:c.473A>G | NP_060224.3:p.Asn158Ser | |
| XM_006715126.2:c.473A>G | XP_006715189.1:p.Asn158Ser | |
| XM_011514714.1:c.473A>G | XP_011513016.1:p.Asn158Ser | |
| NM_017754.4:c.473A>G MANE Select | NP_060224.3:p.Asn158Ser |