ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17033059C>T , CM000663.2:g.17033059C>T | GRCh38 |
| NC_000001.10:g.17359554C>T , CM000663.1:g.17359554C>T | GRCh37 |
| NC_000001.9:g.17232141C>T | NCBI36 |
| NG_012340.1:g.26112G>A , LRG_316:g.26112G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.115+1G>A | ENSP00000481376.2:n.115+1G>A | |
| ENST00000491274.6:c.244+1G>A | ENSP00000480482.2:n.244+1G>A | |
| ENST00000375499.8:c.286+1G>A MANE Select | ENSP00000364649.3:n.286+1G>A | |
| ENST00000375499.7:c.286+1G>A | ENSP00000364649.3:n.286+1G>A | |
| ENST00000463045.2:c.115+1G>A | ENSP00000481376.1:n.115+1G>A | |
| ENST00000466613.2:n.299G>A | ||
| ENST00000475506.1:n.203+1G>A | ||
| ENST00000485515.5:n.274+1G>A | ||
| ENST00000491274.5:c.244+1G>A | ENSP00000480482.1:n.244+1G>A | |
| NM_003000.2:c.286+1G>A , LRG_316t1:c.286+1G>A | NP_002991.2:n.286+1G>A | |
| NM_003000.3:c.286+1G>A MANE Select | NP_002991.2:n.286+1G>A |