Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17023857G= , CM000663.2:g.17023857G= | GRCh38 |
| NC_000001.10:g.17350352G= , CM000663.1:g.17350352G= | GRCh37 |
| NC_000001.9:g.17222939G= | NCBI36 |
| NG_012340.1:g.35314C= , LRG_316:g.35314C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.471+116C= | ENSP00000481376.2:n.471+116C= | |
| ENST00000491274.6:c.600+116C= | ENSP00000480482.2:n.600+116C= | |
| ENST00000375499.8:c.642+116C= MANE Select | ENSP00000364649.3:n.642+116C= | |
| ENST00000375499.7:c.642+116C= | ENSP00000364649.3:n.642+116C= | |
| ENST00000485515.5:n.576+116C= | ||
| NM_003000.2:c.642+116C= , LRG_316t1:c.642+116C= | NP_002991.2:n.642+116C= | |
| NM_003000.3:c.642+116C= MANE Select | NP_002991.2:n.642+116C= |