Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17027546G>C , CM000663.2:g.17027546G>C | GRCh38 |
| NC_000001.10:g.17354041G>C , CM000663.1:g.17354041G>C | GRCh37 |
| NC_000001.9:g.17226628G>C | NCBI36 |
| NG_012340.1:g.31625C>G , LRG_316:g.31625C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.369+203C>G | ENSP00000481376.2:n.369+203C>G | |
| ENST00000491274.6:c.498+203C>G | ENSP00000480482.2:n.498+203C>G | |
| ENST00000375499.8:c.540+203C>G MANE Select | ENSP00000364649.3:n.540+203C>G | |
| ENST00000375499.7:c.540+203C>G | ENSP00000364649.3:n.540+203C>G | |
| ENST00000485515.5:n.474+203C>G | ||
| ENST00000491274.5:c.498+203C>G | ENSP00000480482.1:n.498+203C>G | |
| NM_003000.2:c.540+203C>G , LRG_316t1:c.540+203C>G | NP_002991.2:n.540+203C>G | |
| NM_003000.3:c.540+203C>G MANE Select | NP_002991.2:n.540+203C>G |