Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12411029A>G , CM000686.2:g.12411029A>G | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_033667.1:n.181-3720T>C | |
| ENST00000357871.6:n.142-4092T>C | |
| ENST00000382963.5:n.58-3720T>C | |
| ENST00000382965.2:n.8-4092T>C | |
| ENST00000382965.3:n.175-4092T>C | |
| ENST00000382965.4:n.8-4092T>C | |
| ENST00000382966.5:n.142-4092T>C | |
| ENST00000493160.5:n.406-3720T>C | |
| ENST00000651802.1:n.192-4092T>C | |
| ENST00000651835.1:n.178-4092T>C | |
| ENST00000689264.1:n.260-4092T>C |