Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120633238C>T , CM000665.2:g.120633238C>T | GRCh38 |
| NC_000003.11:g.120352085C>T , CM000665.1:g.120352085C>T | GRCh37 |
| NC_000003.10:g.121834775C>T | NCBI36 |
| NG_011957.1:g.54244G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000187.4:c.1097G>A MANE Select | NP_000178.2:p.Ser366Asn |
| ENST00000283871.10:c.1097G>A MANE Select | ENSP00000283871.5:p.Ser366Asn |
| NM_000187.3:c.1097G>A | NP_000178.2:p.Ser366Asn |
| ENST00000283871.9:c.1097G>A | ENSP00000283871.5:p.Ser366Asn |
| ENST00000470321.1:n.437G>A | |
| ENST00000492108.5:c.376G>A | ENSP00000419838.1:n.376G>A |
| XM_005247412.1:c.872G>A | XP_005247469.1:p.Ser291Asn |
| XM_005247412.2:c.872G>A | XP_005247469.1:p.Ser291Asn |
| XM_017006277.2:c.674G>A | XP_016861766.1:p.Ser225Asn |