Linked Data
ClinVar Variation Id:
35478
ClinVar RCV Id:
RCV000029153
dbSNP Id:
rs587776914
gnomAD v4:
17-68554829-T-C
PubMed:
PMID:21990045
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.68554829T>C , CM000679.2:g.68554829T>C | GRCh38 |
| NC_000017.10:g.66550970T>C , CM000679.1:g.66550970T>C | GRCh37 |
| NC_000017.9:g.64062565T>C | NCBI36 |
| NG_029809.1:g.51126A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592554.2:c.590-2A>G MANE Select | ENSP00000468308.1:n.590-2A>G | |
| ENST00000226094.9:n.247-2A>G | ||
| ENST00000590074.5:c.746-2A>G | ||
| ENST00000592554.1:c.590-2A>G | ENSP00000468308.1:n.590-2A>G | |
| ENST00000592847.1:n.232-2A>G | ||
| NM_001243746.1:c.176-2A>G | NP_001230675.1:n.176-2A>G | |
| NM_017565.3:c.590-2A>G | NP_060035.2:n.590-2A>G | |
| NR_027751.1:n.284-2A>G | ||
| XM_006721959.2:c.176-2A>G | XP_006722022.1:n.176-2A>G | |
| XM_006721960.2:c.590-2A>G | XP_006722023.1:n.590-2A>G | |
| XM_011524917.1:c.590-2A>G | XP_011523219.1:n.590-2A>G | |
| XM_011524918.1:c.590-2A>G | XP_011523220.1:n.590-2A>G | |
| XM_011524919.1:c.590-2A>G | XP_011523221.1:n.590-2A>G | |
| XM_011524920.1:c.590-2A>G | XP_011523222.1:n.590-2A>G | |
| XM_011524921.1:c.590-2A>G | XP_011523223.1:n.590-2A>G | |
| XR_429905.1:n.718-2A>G | ||
| XR_934486.1:n.718-2A>G | ||
| XR_934487.1:n.718-2A>G | ||
| XR_934488.1:n.718-2A>G | ||
| XR_934489.1:n.718-2A>G | ||
| XR_934490.1:n.718-2A>G | ||
| XM_006721959.3:c.176-2A>G | XP_006722022.1:n.176-2A>G | |
| XM_011524918.3:c.590-2A>G | XP_011523220.1:n.590-2A>G | |
| XM_017024781.2:c.590-2A>G | XP_016880270.1:n.590-2A>G | |
| XR_001752543.2:n.661-2A>G | ||
| XR_001752544.2:n.661-2A>G | ||
| XR_002958041.1:n.661-2A>G | ||
| XR_429905.2:n.661-2A>G | ||
| XR_934487.3:n.661-2A>G | ||
| NM_017565.4:c.590-2A>G MANE Select | NP_060035.2:n.590-2A>G | |
| NM_001243746.2:c.176-2A>G | NP_001230675.1:n.176-2A>G | |
| NR_027751.2:n.284-2A>G |