Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942402C>T , CM000672.2:g.94942402C>T | GRCh38 |
| NC_000010.10:g.96702159C>T , CM000672.1:g.96702159C>T | GRCh37 |
| NC_000010.9:g.96692149C>T | NCBI36 |
| NG_008385.1:g.8745C>T | |
| NG_008385.2:g.9245C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.481+61C>T MANE Select | ENSP00000260682.6:n.481+61C>T | |
| ENST00000643112.1:c.481+61C>T | ENSP00000496202.1:n.481+61C>T | |
| ENST00000645207.1:n.634+61C>T | ||
| ENST00000260682.6:c.481+61C>T | ENSP00000260682.6:n.481+61C>T | |
| ENST00000461906.1:n.567C>T | ||
| ENST00000473496.1:n.252+61C>T | ||
| NM_000771.3:c.481+61C>T | NP_000762.2:n.481+61C>T | |
| NM_000771.4:c.481+61C>T MANE Select | NP_000762.2:n.481+61C>T |