Linked Data
ClinVar Variation Id:
2748739
ClinVar RCV Id:
RCV003509396
dbSNP Id:
rs1248899218
gnomAD v3:
1-40092179-A-C
gnomAD v4:
1-40092179-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40092179A>C , CM000663.2:g.40092179A>C | GRCh38 |
| NC_000001.10:g.40557851A>C , CM000663.1:g.40557851A>C | GRCh37 |
| NC_000001.9:g.40330438A>C | NCBI36 |
| NG_009192.1:g.10292T>G , LRG_690:g.10292T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*71-7T>G | ENSP00000361865.5:n.*71-7T>G | |
| ENST00000433473.8:c.232-7T>G | ENSP00000394863.4:n.232-7T>G | |
| ENST00000439754.6:c.235-7T>G | ENSP00000403207.2:n.235-7T>G | |
| ENST00000449045.7:c.125-2667T>G | ENSP00000392293.2:n.125-2667T>G | |
| ENST00000526547.2:c.515-7T>G | ||
| ENST00000527311.7:c.234+219T>G | ENSP00000436695.3:n.234+219T>G | |
| ENST00000530704.6:c.235-7T>G | ENSP00000431655.1:n.235-7T>G | |
| ENST00000641083.1:c.213-7T>G | ||
| ENST00000641236.1:n.465T>G | ||
| ENST00000641319.1:c.235-7T>G | ENSP00000493128.1:n.235-7T>G | |
| ENST00000641471.1:c.322-7T>G | ENSP00000493146.1:n.322-7T>G | |
| ENST00000641548.1:c.*87-7T>G | ENSP00000492984.1:n.*87-7T>G | |
| ENST00000641691.1:c.*87-7T>G | ENSP00000492910.1:n.*87-7T>G | |
| ENST00000641924.1:c.124+4936T>G | ENSP00000493063.1:n.124+4936T>G | |
| ENST00000642050.2:c.235-7T>G MANE Select | ENSP00000493153.1:n.235-7T>G | |
| ENST00000372779.8:c.322-7T>G | ENSP00000361865.4:n.322-7T>G | |
| ENST00000433473.7:c.235-7T>G | ENSP00000394863.3:n.235-7T>G | |
| ENST00000449045.6:c.125-2667T>G | ENSP00000392293.2:n.125-2667T>G | |
| ENST00000526547.1:c.85-7T>G | ENSP00000436481.1:n.85-7T>G | |
| ENST00000527311.6:c.125-122T>G | ENSP00000436695.2:n.125-122T>G | |
| ENST00000529905.5:c.235-7T>G | ENSP00000432053.1:n.235-7T>G | |
| ENST00000530704.5:c.235-7T>G | ENSP00000431655.1:n.235-7T>G | |
| NM_000310.3:c.235-7T>G , LRG_690t1:c.235-7T>G | NP_000301.1:n.235-7T>G | |
| NM_001142604.1:c.125-2667T>G | NP_001136076.1:n.125-2667T>G | |
| XM_005271008.1:c.235-7T>G | XP_005271065.1:n.235-7T>G | |
| NM_001363695.1:c.235-7T>G | NP_001350624.1:n.235-7T>G | |
| NM_000310.4:c.235-7T>G MANE Select | NP_000301.1:n.235-7T>G | |
| NM_001142604.2:c.125-2667T>G | NP_001136076.1:n.125-2667T>G | |
| NM_001363695.2:c.235-7T>G | NP_001350624.1:n.235-7T>G |