Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17027543C>G , CM000663.2:g.17027543C>G | GRCh38 |
| NC_000001.10:g.17354038C>G , CM000663.1:g.17354038C>G | GRCh37 |
| NC_000001.9:g.17226625C>G | NCBI36 |
| NG_012340.1:g.31628G>C , LRG_316:g.31628G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.369+206G>C | ENSP00000481376.2:n.369+206G>C | |
| ENST00000491274.6:c.498+206G>C | ENSP00000480482.2:n.498+206G>C | |
| ENST00000375499.8:c.540+206G>C MANE Select | ENSP00000364649.3:n.540+206G>C | |
| ENST00000375499.7:c.540+206G>C | ENSP00000364649.3:n.540+206G>C | |
| ENST00000485515.5:n.474+206G>C | ||
| ENST00000491274.5:c.498+206G>C | ENSP00000480482.1:n.498+206G>C | |
| NM_003000.2:c.540+206G>C , LRG_316t1:c.540+206G>C | NP_002991.2:n.540+206G>C | |
| NM_003000.3:c.540+206G>C MANE Select | NP_002991.2:n.540+206G>C |