Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20618475C>T , CM000663.2:g.20618475C>T | GRCh38 |
| NC_000001.10:g.20944968C>T , CM000663.1:g.20944968C>T | GRCh37 |
| NC_000001.9:g.20817555C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375071.4:c.348C>T MANE Select | ENSP00000364212.3:p.Tyr116= | |
| ENST00000375071.3:c.348C>T | ENSP00000364212.3:p.Tyr116= | |
| ENST00000461985.1:n.334C>T | ||
| NM_001785.2:c.348C>T | NP_001776.1:p.Tyr116= | |
| NM_001785.3:c.348C>T MANE Select | NP_001776.1:p.Tyr116= |