| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32996330C>T , CM000682.2:g.32996330C>T | GRCh38 |
| NC_000020.10:g.31584136C>T , CM000682.1:g.31584136C>T | GRCh37 |
| NC_000020.9:g.31047797C>T | NCBI36 |
| NG_054760.1:g.13120G>A |
| HGVS | Amino-acid Change |
|---|---|
| NM_080675.4:c.419G>A MANE Select | NP_542406.2:p.Ser140Asn |
| ENST00000356173.8:c.419G>A MANE Select | ENSP00000348496.3:p.Ser140Asn |
| NM_080675.3:c.419G>A | NP_542406.2:p.Ser140Asn |
| ENST00000356173.7:c.419G>A | ENSP00000348496.3:p.Ser140Asn |
| ENST00000375523.7:c.344G>A | ENSP00000364673.3:p.Ser115Asn |
| XM_011528573.1:c.488G>A | XP_011526875.1:p.Ser163Asn |
| XM_011528574.1:c.344G>A | XP_011526876.1:p.Ser115Asn |
| XM_011528575.1:c.149G>A | XP_011526877.1:p.Ser50Asn |
| XM_011528576.1:c.488G>A | XP_011526878.1:p.Ser163Asn |