Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942022T>C , CM000672.2:g.94942022T>C | GRCh38 |
| NC_000010.10:g.96701779T>C , CM000672.1:g.96701779T>C | GRCh37 |
| NC_000010.9:g.96691769T>C | NCBI36 |
| NG_008385.1:g.8365T>C | |
| NG_008385.2:g.8865T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.331+2T>C MANE Select | ENSP00000260682.6:n.331+2T>C | |
| ENST00000643112.1:c.331+2T>C | ENSP00000496202.1:n.331+2T>C | |
| ENST00000645207.1:n.484+2T>C | ||
| ENST00000260682.6:c.331+2T>C | ENSP00000260682.6:n.331+2T>C | |
| ENST00000461906.1:n.356+2T>C | ||
| ENST00000473496.1:n.102+2T>C | ||
| NM_000771.3:c.331+2T>C | NP_000762.2:n.331+2T>C | |
| NM_000771.4:c.331+2T>C MANE Select | NP_000762.2:n.331+2T>C |