Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230274552T>C , CM000663.2:g.230274552T>C | GRCh38 |
| NC_000001.10:g.230410298T>C , CM000663.1:g.230410298T>C | GRCh37 |
| NC_000001.9:g.228476921T>C | NCBI36 |
| NG_011854.1:g.212343T>C | |
| NG_011854.2:g.221764T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366672.5:c.1548T>C MANE Select | ENSP00000355632.4:p.Asn516= | |
| ENST00000366672.4:c.1548T>C | ENSP00000355632.4:p.Asn516= | |
| ENST00000485438.1:n.1200T>C | ||
| NM_001291866.1:c.1434T>C | NP_001278795.1:p.Asn478= | |
| NM_004481.4:c.1548T>C | NP_004472.1:p.Asn516= | |
| XM_011544154.1:c.1476T>C | XP_011542456.1:p.Asn492= | |
| XM_011544155.1:c.1347T>C | XP_011542457.1:p.Asn449= | |
| NM_004481.5:c.1548T>C MANE Select | NP_004472.1:p.Asn516= | |
| NM_001291866.2:c.1434T>C | NP_001278795.1:p.Asn478= |