Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.631391C= , CM000663.2:g.631391C= | GRCh38 |
| NC_000001.10:g.566771C= , CM000663.1:g.566771C= | GRCh37 |
| NC_000001.9:g.556634C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000414273.1:n.318C= | |
| ENST00000419394.2:n.481-44436G= | |
| ENST00000440196.3:n.86+1653G= | |
| ENST00000440200.5:n.170-23335G= | |
| ENST00000634337.2:n.161-23335G= | |
| ENST00000635509.2:n.313-29814G= | |
| ENST00000648019.1:n.636-23335G= |