Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120628470G>A , CM000665.2:g.120628470G>A | GRCh38 |
| NC_000003.11:g.120347317G>A , CM000665.1:g.120347317G>A | GRCh37 |
| NC_000003.10:g.121830007G>A | NCBI36 |
| NG_011957.1:g.59012C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000187.4:c.1248C>T MANE Select | NP_000178.2:p.Ser416= |
| ENST00000283871.10:c.1248C>T MANE Select | ENSP00000283871.5:p.Ser416= |
| NM_000187.3:c.1248C>T | NP_000178.2:p.Ser416= |
| ENST00000283871.9:c.1248C>T | ENSP00000283871.5:p.Ser416= |
| ENST00000492108.5:c.527C>T | ENSP00000419838.1:n.527C>T |
| XM_005247412.1:c.1023C>T | XP_005247469.1:p.Ser341= |
| XM_005247412.2:c.1023C>T | XP_005247469.1:p.Ser341= |
| XM_017006277.2:c.825C>T | XP_016861766.1:p.Ser275= |