Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.121538815A>C , CM000663.2:g.121538815A>C | GRCh38 |
| NC_000001.10:g.121280613A>C , CM000663.1:g.121280613A>C | GRCh37 |
| NC_000001.9:g.120982136A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648011.2:n.426+395A>C | ||
| ENST00000692042.1:n.317+395A>C | ||
| ENST00000648011.1:n.238+395A>C | ||
| ENST00000458200.2:n.116-17695A>C | ||
| ENST00000618253.1:n.426+395A>C | ||
| ENST00000622787.4:n.349-17695A>C | ||
| NR_003955.1:n.349-17695A>C |