Linked Data
ClinVar Variation Id:
297246
ClinVar RCV Id:
RCV000393477
dbSNP Id:
rs1057515556
gnomAD v3:
1-40080499-A-G
gnomAD v4:
1-40080499-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40080499A>G , CM000663.2:g.40080499A>G | GRCh38 |
| NC_000001.10:g.40546171A>G , CM000663.1:g.40546171A>G | GRCh37 |
| NC_000001.9:g.40318758A>G | NCBI36 |
| NG_009192.1:g.21972T>C , LRG_690:g.21972T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*373-12T>C | ENSP00000361865.5:n.*373-12T>C | |
| ENST00000433473.8:c.534-12T>C | ENSP00000394863.4:n.534-12T>C | |
| ENST00000439754.6:c.537-12T>C | ENSP00000403207.2:n.537-12T>C | |
| ENST00000449045.7:c.228-12T>C | ENSP00000392293.2:n.228-12T>C | |
| ENST00000527311.7:c.306-12T>C | ENSP00000436695.3:n.306-12T>C | |
| ENST00000530076.6:c.-121-12T>C | ENSP00000434007.1:n.-121-12T>C | |
| ENST00000530704.6:c.*160-12T>C | ENSP00000431655.1:n.*160-12T>C | |
| ENST00000641083.1:c.515-12T>C | ||
| ENST00000641236.1:n.774-12T>C | ||
| ENST00000641319.1:c.537-12T>C | ENSP00000493128.1:n.537-12T>C | |
| ENST00000641381.1:c.149-3586T>C | ||
| ENST00000641471.1:c.624-12T>C | ENSP00000493146.1:n.624-12T>C | |
| ENST00000641691.1:c.*389-12T>C | ENSP00000492910.1:n.*389-12T>C | |
| ENST00000641924.1:c.125-12T>C | ENSP00000493063.1:n.125-12T>C | |
| ENST00000642050.2:c.537-12T>C MANE Select | ENSP00000493153.1:n.537-12T>C | |
| ENST00000372779.8:c.624-12T>C | ENSP00000361865.4:n.624-12T>C | |
| ENST00000433473.7:c.537-12T>C | ENSP00000394863.3:n.537-12T>C | |
| ENST00000439754.5:c.222-12T>C | ENSP00000403207.1:n.222-12T>C | |
| ENST00000449045.6:c.228-12T>C | ENSP00000392293.2:n.228-12T>C | |
| ENST00000527311.6:c.312-12T>C | ENSP00000436695.2:n.312-12T>C | |
| ENST00000529905.5:c.537-12T>C | ENSP00000432053.1:n.537-12T>C | |
| ENST00000530076.5:c.-121-12T>C | ENSP00000434007.1:n.-121-12T>C | |
| ENST00000530704.5:c.*160-12T>C | ENSP00000431655.1:n.*160-12T>C | |
| NM_000310.3:c.537-12T>C , LRG_690t1:c.537-12T>C | NP_000301.1:n.537-12T>C | |
| NM_001142604.1:c.228-12T>C | NP_001136076.1:n.228-12T>C | |
| XM_005271008.1:c.537-12T>C | XP_005271065.1:n.537-12T>C | |
| NM_001363695.1:c.537-12T>C | NP_001350624.1:n.537-12T>C | |
| NM_000310.4:c.537-12T>C MANE Select | NP_000301.1:n.537-12T>C | |
| NM_001142604.2:c.228-12T>C | NP_001136076.1:n.228-12T>C | |
| NM_001363695.2:c.537-12T>C | NP_001350624.1:n.537-12T>C |