Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94483191T>C , CM000663.2:g.94483191T>C | GRCh38 |
| NC_000001.10:g.94948747T>C , CM000663.1:g.94948747T>C | GRCh37 |
| NC_000001.9:g.94721335T>C | NCBI36 |
| NG_008865.1:g.69815T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002858.4:c.849T>C MANE Select | NP_002849.1:p.Asn283= |
| ENST00000370214.9:c.849T>C MANE Select | ENSP00000359233.4:p.Asn283= |
| NM_002858.3:c.849T>C | NP_002849.1:p.Asn283= |
| ENST00000370214.8:c.849T>C | ENSP00000359233.4:p.Asn283= |
| ENST00000484213.1:n.1699T>C | |
| ENST00000493416.5:n.407T>C | |
| ENST00000647998.2:c.849T>C | ENSP00000497921.2:p.Asn283= |
| XM_005271089.2:c.756T>C | XP_005271146.1:p.Asn252= |
| XM_006710802.2:c.921T>C | XP_006710865.2:p.Asn307= |
| XM_011541877.1:c.-88T>C | XP_011540179.1:n.-88T>C |