Linked Data
ClinVar Variation Id:
3014378
ClinVar RCV Id:
RCV003876017
dbSNP Id:
rs947395010
gnomAD v3:
2-189058836-T-C
gnomAD v4:
2-189058836-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189058836T>C , CM000664.2:g.189058836T>C | GRCh38 |
| NC_000002.11:g.189923562T>C , CM000664.1:g.189923562T>C | GRCh37 |
| NC_000002.10:g.189631807T>C | NCBI36 |
| NG_011799.1:g.126044A>G | |
| NG_011799.2:g.126044A>G | |
| NG_011799.3:g.171466A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.2130+13A>G MANE Select | ENSP00000364000.3:n.2130+13A>G | |
| ENST00000374866.7:c.2130+13A>G | ENSP00000364000.3:n.2130+13A>G | |
| ENST00000470524.2:n.236+13A>G | ||
| ENST00000618828.1:c.969+13A>G | ENSP00000482184.1:n.969+13A>G | |
| NM_000393.3:c.2130+13A>G | NP_000384.2:n.2130+13A>G | |
| XM_011510573.1:c.1992+13A>G | XP_011508875.1:n.1992+13A>G | |
| NM_000393.4:c.2130+13A>G | NP_000384.2:n.2130+13A>G | |
| XM_011510573.3:c.1992+13A>G | XP_011508875.1:n.1992+13A>G | |
| NM_000393.5:c.2130+13A>G MANE Select | NP_000384.2:n.2130+13A>G |