Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155225189T>G , CM000663.2:g.155225189T>G | GRCh38 |
| NC_000001.9:g.153461604T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463838.6:n.158+2193A>C | ||
| ENST00000688506.1:n.81+2193A>C | ||
| ENST00000689837.1:n.132+2193A>C | ||
| ENST00000691165.1:n.81+2193A>C | ||
| ENST00000693149.1:n.81+2193A>C | ||
| ENST00000693267.1:n.147+2193A>C | ||
| ENST00000693749.1:n.132+2193A>C | ||
| ENST00000368374.5:n.42-102A>C | ||
| NR_002188.3:n.153+2193A>C |