Linked Data
ClinVar Variation Id:
56176
ClinVar RCV Id:
RCV000049587
dbSNP Id:
rs386833628
gnomAD v2:
1-40562786-C-T
gnomAD v3:
1-40097114-C-T
gnomAD v4:
1-40097114-C-T
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40097114C>T , CM000663.2:g.40097114C>T | GRCh38 |
| NC_000001.10:g.40562786C>T , CM000663.1:g.40562786C>T | GRCh37 |
| NC_000001.9:g.40335373C>T | NCBI36 |
| NG_009192.1:g.5357G>A , LRG_690:g.5357G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.125G>A | ENSP00000361865.5:p.Gly42Asp | |
| ENST00000433473.8:c.124+1G>A | ENSP00000394863.4:n.124+1G>A | |
| ENST00000439754.6:c.124+1G>A | ENSP00000403207.2:n.124+1G>A | |
| ENST00000449045.7:c.124+1G>A | ENSP00000392293.2:n.124+1G>A | |
| ENST00000526547.2:c.99G>A | ||
| ENST00000527311.7:c.124+1G>A | ENSP00000436695.3:n.124+1G>A | |
| ENST00000530704.6:c.124+1G>A | ENSP00000431655.1:n.124+1G>A | |
| ENST00000641083.1:c.102+1G>A | ||
| ENST00000641236.1:n.136+1G>A | ||
| ENST00000641319.1:c.124+1G>A | ENSP00000493128.1:n.124+1G>A | |
| ENST00000641471.1:c.124+1G>A | ENSP00000493146.1:n.124+1G>A | |
| ENST00000641548.1:c.124+1G>A | ENSP00000492984.1:n.124+1G>A | |
| ENST00000641691.1:c.124+1G>A | ENSP00000492910.1:n.124+1G>A | |
| ENST00000641924.1:c.124+1G>A | ENSP00000493063.1:n.124+1G>A | |
| ENST00000642050.2:c.124+1G>A MANE Select | ENSP00000493153.1:n.124+1G>A | |
| ENST00000372779.8:c.124+1G>A | ENSP00000361865.4:n.124+1G>A | |
| ENST00000433473.7:c.124+1G>A | ENSP00000394863.3:n.124+1G>A | |
| ENST00000449045.6:c.124+1G>A | ENSP00000392293.2:n.124+1G>A | |
| ENST00000527311.6:c.124+1G>A | ENSP00000436695.2:n.124+1G>A | |
| ENST00000529905.5:c.124+1G>A | ENSP00000432053.1:n.124+1G>A | |
| ENST00000530704.5:c.124+1G>A | ENSP00000431655.1:n.124+1G>A | |
| NM_000310.3:c.124+1G>A , LRG_690t1:c.124+1G>A | NP_000301.1:n.124+1G>A | |
| NM_001142604.1:c.124+1G>A | NP_001136076.1:n.124+1G>A | |
| XM_005271008.1:c.124+1G>A | XP_005271065.1:n.124+1G>A | |
| NM_001363695.1:c.124+1G>A | NP_001350624.1:n.124+1G>A | |
| NM_000310.4:c.124+1G>A MANE Select | NP_000301.1:n.124+1G>A | |
| NM_001142604.2:c.124+1G>A | NP_001136076.1:n.124+1G>A | |
| NM_001363695.2:c.124+1G>A | NP_001350624.1:n.124+1G>A |