Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94948879C>T , CM000672.2:g.94948879C>T | GRCh38 |
| NC_000010.10:g.96708636C>T , CM000672.1:g.96708636C>T | GRCh37 |
| NC_000010.9:g.96698626C>T | NCBI36 |
| NG_008385.1:g.15222C>T | |
| NG_008385.2:g.15722C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.643-229C>T MANE Select | ENSP00000260682.6:n.643-229C>T | |
| ENST00000643112.1:c.643-229C>T | ENSP00000496202.1:n.643-229C>T | |
| ENST00000260682.6:c.643-229C>T | ENSP00000260682.6:n.643-229C>T | |
| ENST00000473496.1:n.414-229C>T | ||
| NM_000771.3:c.643-229C>T | NP_000762.2:n.643-229C>T | |
| NM_000771.4:c.643-229C>T MANE Select | NP_000762.2:n.643-229C>T |