Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98056910C>T , CM000671.2:g.98056910C>T | GRCh38 |
| NC_000009.11:g.100819192C>T , CM000671.1:g.100819192C>T | GRCh37 |
| NC_000009.10:g.99859013C>T | NCBI36 |
| NG_052789.1:g.5234C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000210444.6:c.102C>T MANE Select | ENSP00000210444.5:p.Asp34= | |
| ENST00000210444.5:c.102C>T | ENSP00000210444.5:p.Asp34= | |
| ENST00000480925.1:n.141C>T | ||
| ENST00000495319.1:n.143C>T | ||
| NM_018946.3:c.102C>T | NP_061819.2:p.Asp34= | |
| XM_024447574.1:c.-1595C>T | XP_024303342.1:n.-1595C>T | |
| NM_018946.4:c.102C>T MANE Select | NP_061819.2:p.Asp34= |