Linked Data
ClinVar Variation Id:
2996955
ClinVar RCV Id:
RCV003859090
MyVariant Identifiers:
chr15:g.72642998G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72350657G>A , CM000677.2:g.72350657G>A | GRCh38 |
| NC_000015.9:g.72642998G>A , CM000677.1:g.72642998G>A | GRCh37 |
| NC_000015.8:g.70430052G>A | NCBI36 |
| NG_009017.1:g.30523C>T | |
| NG_009017.2:g.30523C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563908.2:n.3019-7C>T | ||
| ENST00000567027.6:c.673-7C>T | ENSP00000457521.2:n.673-7C>T | |
| ENST00000682061.1:c.*335-7C>T | ENSP00000508316.1:n.*335-7C>T | |
| ENST00000682177.1:c.709C>T | ENSP00000507409.1:p.Leu237Phe | |
| ENST00000682461.1:c.779-7C>T | ENSP00000507308.1:n.779-7C>T | |
| ENST00000682653.1:n.704-7C>T | ||
| ENST00000682657.1:c.*83-7C>T | ENSP00000507753.1:n.*83-7C>T | |
| ENST00000682721.1:c.*476-7C>T | ENSP00000507535.1:n.*476-7C>T | |
| ENST00000682843.1:c.*571-7C>T | ENSP00000508173.1:n.*571-7C>T | |
| ENST00000683003.1:c.*83-7C>T | ENSP00000507576.1:n.*83-7C>T | |
| ENST00000683133.1:c.857-7C>T | ENSP00000508108.1:n.857-7C>T | |
| ENST00000683228.1:n.704-7C>T | ||
| ENST00000683243.1:c.*83-7C>T | ENSP00000507042.1:n.*83-7C>T | |
| ENST00000683463.1:c.673-7C>T | ENSP00000507986.1:n.673-7C>T | |
| ENST00000683548.1:n.704-7C>T | ||
| ENST00000683579.1:c.*571-7C>T | ENSP00000506867.1:n.*571-7C>T | |
| ENST00000683587.1:n.704-7C>T | ||
| ENST00000683681.1:c.673-7C>T | ENSP00000508110.1:n.673-7C>T | |
| ENST00000683735.1:c.*571-7C>T | ENSP00000508336.1:n.*571-7C>T | |
| ENST00000683742.1:n.504-7C>T | ||
| ENST00000683853.1:c.673-7C>T | ENSP00000506834.1:n.673-7C>T | |
| ENST00000683860.1:c.673-7C>T | ENSP00000507179.1:n.673-7C>T | |
| ENST00000683884.1:c.673-7C>T | ENSP00000507004.1:n.673-7C>T | |
| ENST00000684041.1:c.673-7C>T | ENSP00000508382.1:n.673-7C>T | |
| ENST00000684125.1:c.673-7C>T | ENSP00000507320.1:n.673-7C>T | |
| ENST00000684203.1:n.2511-7C>T | ||
| ENST00000684231.1:c.*83-7C>T | ENSP00000507748.1:n.*83-7C>T | |
| ENST00000684263.1:c.673-7C>T | ENSP00000508369.1:n.673-7C>T | |
| ENST00000684305.1:c.1121-7C>T | ENSP00000506819.1:n.1121-7C>T | |
| ENST00000684415.1:c.673-7C>T | ENSP00000507227.1:n.673-7C>T | |
| ENST00000684520.1:c.673-7C>T | ENSP00000506826.1:n.673-7C>T | |
| ENST00000684602.1:c.*339-7C>T | ENSP00000507996.1:n.*339-7C>T | |
| ENST00000684667.1:c.1004-7C>T | ENSP00000507003.1:n.1004-7C>T | |
| ENST00000268097.10:c.673-7C>T MANE Select | ENSP00000268097.6:n.673-7C>T | |
| ENST00000268097.9:c.673-7C>T | ENSP00000268097.5:n.673-7C>T | |
| ENST00000379915.4:c.413-4332C>T | ENSP00000478716.1:n.413-4332C>T | |
| ENST00000563762.5:c.606-7C>T | ENSP00000456346.1:n.606-7C>T | |
| ENST00000566304.5:c.706-7C>T | ENSP00000455114.1:n.706-7C>T | |
| ENST00000566672.5:c.*83-7C>T | ENSP00000457037.1:n.*83-7C>T | |
| ENST00000567027.5:c.545-7C>T | ||
| ENST00000567159.5:c.673-7C>T | ENSP00000456489.1:n.673-7C>T | |
| ENST00000567411.5:c.*194-7C>T | ENSP00000455545.1:n.*194-7C>T | |
| ENST00000568777.5:n.6077-7C>T | ||
| ENST00000569410.5:c.673-7C>T | ENSP00000457125.1:n.673-7C>T | |
| ENST00000569509.5:n.520-7C>T | ||
| NM_000520.4:c.673-7C>T | NP_000511.2:n.673-7C>T | |
| NM_000520.5:c.673-7C>T | NP_000511.2:n.673-7C>T | |
| NM_001318825.1:c.706-7C>T | NP_001305754.1:n.706-7C>T | |
| NR_134869.1:n.1174-7C>T | ||
| NM_000520.6:c.673-7C>T MANE Select | NP_000511.2:n.673-7C>T | |
| NM_001318825.2:c.706-7C>T | NP_001305754.1:n.706-7C>T | |
| NR_134869.2:n.715-7C>T | ||
| NR_134869.3:n.715-7C>T |