Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022419A>C , CM000663.2:g.17022419A>C | GRCh38 |
| NC_000001.10:g.17348914A>C , CM000663.1:g.17348914A>C | GRCh37 |
| NC_000001.9:g.17221501A>C | NCBI36 |
| NG_012340.1:g.36752T>G , LRG_316:g.36752T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.594+189T>G | ENSP00000481376.2:n.594+189T>G | |
| ENST00000491274.6:c.723+189T>G | ENSP00000480482.2:n.723+189T>G | |
| ENST00000375499.8:c.765+189T>G MANE Select | ENSP00000364649.3:n.765+189T>G | |
| ENST00000375499.7:c.765+189T>G | ENSP00000364649.3:n.765+189T>G | |
| ENST00000475049.5:n.190+189T>G | ||
| ENST00000485092.5:n.429+189T>G | ||
| NM_003000.2:c.765+189T>G , LRG_316t1:c.765+189T>G | NP_002991.2:n.765+189T>G | |
| NM_003000.3:c.765+189T>G MANE Select | NP_002991.2:n.765+189T>G |