ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17033058A>T , CM000663.2:g.17033058A>T | GRCh38 |
| NC_000001.10:g.17359553A>T , CM000663.1:g.17359553A>T | GRCh37 |
| NC_000001.9:g.17232140A>T | NCBI36 |
| NG_012340.1:g.26113T>A , LRG_316:g.26113T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.115+2T>A | ENSP00000481376.2:n.115+2T>A | |
| ENST00000491274.6:c.244+2T>A | ENSP00000480482.2:n.244+2T>A | |
| ENST00000375499.8:c.286+2T>A MANE Select | ENSP00000364649.3:n.286+2T>A | |
| ENST00000375499.7:c.286+2T>A | ENSP00000364649.3:n.286+2T>A | |
| ENST00000463045.2:c.115+2T>A | ENSP00000481376.1:n.115+2T>A | |
| ENST00000466613.2:n.300T>A | ||
| ENST00000475506.1:n.203+2T>A | ||
| ENST00000485515.5:n.274+2T>A | ||
| ENST00000491274.5:c.244+2T>A | ENSP00000480482.1:n.244+2T>A | |
| NM_003000.2:c.286+2T>A , LRG_316t1:c.286+2T>A | NP_002991.2:n.286+2T>A | |
| NM_003000.3:c.286+2T>A MANE Select | NP_002991.2:n.286+2T>A |