ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55157048A>C , CM000681.2:g.55157048A>C | GRCh38 |
| NC_000019.9:g.55668416A>C , CM000681.1:g.55668416A>C | GRCh37 |
| NC_000019.8:g.60360228A>C | NCBI36 |
| NG_007866.2:g.5685T>G , LRG_432:g.5685T>G | |
| NG_032759.1:g.14675T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.108+2T>G MANE Select | ENSP00000341838.5:n.108+2T>G | |
| ENST00000665070.1:c.108+2T>G | ENSP00000499482.1:n.108+2T>G | |
| ENST00000344887.9:c.108+2T>G | ENSP00000341838.5:n.108+2T>G | |
| ENST00000586446.1:n.252T>G | ||
| ENST00000586669.5:n.116+2T>G | ||
| ENST00000587176.5:n.292+2T>G | ||
| ENST00000587871.1:c.727+2T>G | ||
| ENST00000590463.1:n.280+2T>G | ||
| NM_000363.4:c.108+2T>G , LRG_432t1:c.108+2T>G | NP_000354.4:n.108+2T>G | |
| NM_000363.5:c.108+2T>G MANE Select | NP_000354.4:n.108+2T>G |