Linked Data
ClinVar Variation Id:
56177
ClinVar RCV Id:
RCV000049588
dbSNP Id:
rs386833629
gnomAD v2:
1-40558194-A-C
gnomAD v4:
1-40092522-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40092522A>C , CM000663.2:g.40092522A>C | GRCh38 |
| NC_000001.10:g.40558194A>C , CM000663.1:g.40558194A>C | GRCh37 |
| NC_000001.9:g.40330781A>C | NCBI36 |
| NG_009192.1:g.9949T>G , LRG_690:g.9949T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372779.9:c.129-15T>G | ENSP00000361865.5:n.129-15T>G | |
| ENST00000433473.8:c.125-18T>G | ENSP00000394863.4:n.125-18T>G | |
| ENST00000439754.6:c.125-15T>G | ENSP00000403207.2:n.125-15T>G | |
| ENST00000449045.7:c.125-3010T>G | ENSP00000392293.2:n.125-3010T>G | |
| ENST00000526547.2:c.405-15T>G | ||
| ENST00000527311.7:c.125-15T>G | ENSP00000436695.3:n.125-15T>G | |
| ENST00000530704.6:c.125-15T>G | ENSP00000431655.1:n.125-15T>G | |
| ENST00000641083.1:c.103-15T>G | ||
| ENST00000641236.1:n.137-15T>G | ||
| ENST00000641319.1:c.125-15T>G | ENSP00000493128.1:n.125-15T>G | |
| ENST00000641471.1:c.212-15T>G | ENSP00000493146.1:n.212-15T>G | |
| ENST00000641548.1:c.125-22T>G | ENSP00000492984.1:n.125-22T>G | |
| ENST00000641691.1:c.125-22T>G | ENSP00000492910.1:n.125-22T>G | |
| ENST00000641924.1:c.124+4593T>G | ENSP00000493063.1:n.124+4593T>G | |
| ENST00000642050.2:c.125-15T>G MANE Select | ENSP00000493153.1:n.125-15T>G | |
| ENST00000372779.8:c.212-15T>G | ENSP00000361865.4:n.212-15T>G | |
| ENST00000433473.7:c.125-15T>G | ENSP00000394863.3:n.125-15T>G | |
| ENST00000449045.6:c.125-3010T>G | ENSP00000392293.2:n.125-3010T>G | |
| ENST00000526547.1:c.-26-15T>G | ENSP00000436481.1:n.-26-15T>G | |
| ENST00000527311.6:c.125-465T>G | ENSP00000436695.2:n.125-465T>G | |
| ENST00000529905.5:c.125-15T>G | ENSP00000432053.1:n.125-15T>G | |
| ENST00000530704.5:c.125-15T>G | ENSP00000431655.1:n.125-15T>G | |
| NM_000310.3:c.125-15T>G , LRG_690t1:c.125-15T>G | NP_000301.1:n.125-15T>G | |
| NM_001142604.1:c.125-3010T>G | NP_001136076.1:n.125-3010T>G | |
| XM_005271008.1:c.125-15T>G | XP_005271065.1:n.125-15T>G | |
| NM_001363695.1:c.125-15T>G | NP_001350624.1:n.125-15T>G | |
| NM_000310.4:c.125-15T>G MANE Select | NP_000301.1:n.125-15T>G | |
| NM_001142604.2:c.125-3010T>G | NP_001136076.1:n.125-3010T>G | |
| NM_001363695.2:c.125-15T>G | NP_001350624.1:n.125-15T>G |