Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186130057C>T , CM000663.2:g.186130057C>T | GRCh38 |
| NC_000001.10:g.186099189C>T , CM000663.1:g.186099189C>T | GRCh37 |
| NC_000001.9:g.184365812C>T | NCBI36 |
| NG_011841.1:g.400507C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.12996C>T MANE Select | ENSP00000271588.4:p.Asn4332= | |
| ENST00000271588.8:c.12996C>T | ENSP00000271588.4:p.Asn4332= | |
| NM_031935.2:c.12996C>T | NP_114141.2:p.Asn4332= | |
| XM_011510037.1:c.12711C>T | XP_011508339.1:p.Asn4237= | |
| XM_011510038.1:c.12996C>T | XP_011508340.1:p.Asn4332= | |
| XM_011510039.1:c.12996C>T | XP_011508341.1:p.Asn4332= | |
| XM_011510038.3:c.12996C>T | XP_011508340.1:p.Asn4332= | |
| XM_017002437.1:c.11019C>T | XP_016857926.1:p.Asn3673= | |
| NM_031935.3:c.12996C>T MANE Select | NP_114141.2:p.Asn4332= |