Linked Data
ClinVar Variation Id:
56178
ClinVar RCV Id:
RCV000049589
dbSNP Id:
rs386833630
gnomAD v4:
1-40092509-T-C
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40092509T>C , CM000663.2:g.40092509T>C | GRCh38 |
| NC_000001.10:g.40558181T>C , CM000663.1:g.40558181T>C | GRCh37 |
| NC_000001.9:g.40330768T>C | NCBI36 |
| NG_009192.1:g.9962A>G , LRG_690:g.9962A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.129-2A>G | ENSP00000361865.5:n.129-2A>G | |
| ENST00000433473.8:c.125-5A>G | ENSP00000394863.4:n.125-5A>G | |
| ENST00000439754.6:c.125-2A>G | ENSP00000403207.2:n.125-2A>G | |
| ENST00000449045.7:c.125-2997A>G | ENSP00000392293.2:n.125-2997A>G | |
| ENST00000526547.2:c.405-2A>G | ||
| ENST00000527311.7:c.125-2A>G | ENSP00000436695.3:n.125-2A>G | |
| ENST00000530704.6:c.125-2A>G | ENSP00000431655.1:n.125-2A>G | |
| ENST00000641083.1:c.103-2A>G | ||
| ENST00000641236.1:n.137-2A>G | ||
| ENST00000641319.1:c.125-2A>G | ENSP00000493128.1:n.125-2A>G | |
| ENST00000641471.1:c.212-2A>G | ENSP00000493146.1:n.212-2A>G | |
| ENST00000641548.1:c.125-9A>G | ENSP00000492984.1:n.125-9A>G | |
| ENST00000641691.1:c.125-9A>G | ENSP00000492910.1:n.125-9A>G | |
| ENST00000641924.1:c.124+4606A>G | ENSP00000493063.1:n.124+4606A>G | |
| ENST00000642050.2:c.125-2A>G MANE Select | ENSP00000493153.1:n.125-2A>G | |
| ENST00000372779.8:c.212-2A>G | ENSP00000361865.4:n.212-2A>G | |
| ENST00000433473.7:c.125-2A>G | ENSP00000394863.3:n.125-2A>G | |
| ENST00000449045.6:c.125-2997A>G | ENSP00000392293.2:n.125-2997A>G | |
| ENST00000526547.1:c.-26-2A>G | ENSP00000436481.1:n.-26-2A>G | |
| ENST00000527311.6:c.125-452A>G | ENSP00000436695.2:n.125-452A>G | |
| ENST00000529905.5:c.125-2A>G | ENSP00000432053.1:n.125-2A>G | |
| ENST00000530704.5:c.125-2A>G | ENSP00000431655.1:n.125-2A>G | |
| NM_000310.3:c.125-2A>G , LRG_690t1:c.125-2A>G | NP_000301.1:n.125-2A>G | |
| NM_001142604.1:c.125-2997A>G | NP_001136076.1:n.125-2997A>G | |
| XM_005271008.1:c.125-2A>G | XP_005271065.1:n.125-2A>G | |
| NM_001363695.1:c.125-2A>G | NP_001350624.1:n.125-2A>G | |
| NM_000310.4:c.125-2A>G MANE Select | NP_000301.1:n.125-2A>G | |
| NM_001142604.2:c.125-2997A>G | NP_001136076.1:n.125-2997A>G | |
| NM_001363695.2:c.125-2A>G | NP_001350624.1:n.125-2A>G |