Linked Data
ClinVar Variation Id:
2415082
ClinVar RCV Id:
RCV003110501
dbSNP Id:
rs751934469
ExAC:
15:72638651 T / C
gnomAD v2:
15-72638651-T-C
gnomAD v4:
15-72346310-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72346310T>C , CM000677.2:g.72346310T>C | GRCh38 |
| NC_000015.9:g.72638651T>C , CM000677.1:g.72638651T>C | GRCh37 |
| NC_000015.8:g.70425705T>C | NCBI36 |
| NG_009017.1:g.34870A>G | |
| NG_009017.2:g.34870A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.*6A>G | ENSP00000457521.2:n.*6A>G | |
| ENST00000682061.1:c.*1008A>G | ENSP00000508316.1:n.*1008A>G | |
| ENST00000682064.1:n.889A>G | ||
| ENST00000682177.1:c.1389A>G | ENSP00000507409.1:n.1389A>G | |
| ENST00000682235.1:n.685A>G | ||
| ENST00000682461.1:c.1452A>G | ENSP00000507308.1:n.1452A>G | |
| ENST00000682653.1:n.1666A>G | ||
| ENST00000682657.1:c.*499A>G | ENSP00000507753.1:n.*499A>G | |
| ENST00000682721.1:c.*1149A>G | ENSP00000507535.1:n.*1149A>G | |
| ENST00000682843.1:c.*987A>G | ENSP00000508173.1:n.*987A>G | |
| ENST00000683003.1:c.*499A>G | ENSP00000507576.1:n.*499A>G | |
| ENST00000683133.1:c.1530A>G | ENSP00000508108.1:n.1530A>G | |
| ENST00000683243.1:c.*499A>G | ENSP00000507042.1:n.*499A>G | |
| ENST00000683463.1:c.*151A>G | ENSP00000507986.1:n.*151A>G | |
| ENST00000683548.1:n.1120A>G | ||
| ENST00000683579.1:c.*1244A>G | ENSP00000506867.1:n.*1244A>G | |
| ENST00000683587.1:n.1193A>G | ||
| ENST00000683681.1:c.1346A>G | ENSP00000508110.1:p.Lys449Arg | |
| ENST00000683735.1:c.*1060A>G | ENSP00000508336.1:n.*1060A>G | |
| ENST00000683853.1:c.*151A>G | ENSP00000506834.1:n.*151A>G | |
| ENST00000683860.1:c.1346A>G | ENSP00000507179.1:p.Lys449Arg | |
| ENST00000683884.1:c.1162A>G | ENSP00000507004.1:p.Arg388Gly | |
| ENST00000684041.1:c.1346A>G | ENSP00000508382.1:p.Lys449Arg | |
| ENST00000684125.1:c.*6A>G | ENSP00000507320.1:n.*6A>G | |
| ENST00000684203.1:n.3111A>G | ||
| ENST00000684231.1:c.*756A>G | ENSP00000507748.1:n.*756A>G | |
| ENST00000684263.1:c.*286A>G | ENSP00000508369.1:n.*286A>G | |
| ENST00000684305.1:c.1794A>G | ENSP00000506819.1:n.1794A>G | |
| ENST00000684415.1:c.*213A>G | ENSP00000507227.1:n.*213A>G | |
| ENST00000684520.1:c.1346A>G | ENSP00000506826.1:p.Lys449Arg | |
| ENST00000684602.1:c.*1012A>G | ENSP00000507996.1:n.*1012A>G | |
| ENST00000684667.1:c.1677A>G | ENSP00000507003.1:n.1677A>G | |
| ENST00000268097.10:c.1346A>G MANE Select | ENSP00000268097.6:p.Lys449Arg | |
| ENST00000268097.9:c.1346A>G | ENSP00000268097.5:p.Lys449Arg | |
| ENST00000379915.4:c.428A>G | ENSP00000478716.1:p.Lys143Arg | |
| ENST00000563762.5:c.841A>G | ENSP00000456346.1:n.841A>G | |
| ENST00000566304.5:c.1379A>G | ENSP00000455114.1:p.Lys460Arg | |
| ENST00000566672.5:c.*756A>G | ENSP00000457037.1:n.*756A>G | |
| ENST00000567027.5:c.961A>G | ||
| ENST00000567159.5:c.1346A>G | ENSP00000456489.1:p.Lys449Arg | |
| ENST00000567411.5:c.*867A>G | ENSP00000455545.1:n.*867A>G | |
| ENST00000568777.5:n.6566A>G | ||
| ENST00000569410.5:c.*151A>G | ENSP00000457125.1:n.*151A>G | |
| NM_000520.4:c.1346A>G | NP_000511.2:p.Lys449Arg | |
| NM_000520.5:c.1346A>G | NP_000511.2:p.Lys449Arg | |
| NM_001318825.1:c.1379A>G | NP_001305754.1:p.Lys460Arg | |
| NR_134869.1:n.1590A>G | ||
| NM_000520.6:c.1346A>G MANE Select | NP_000511.2:p.Lys449Arg | |
| NM_001318825.2:c.1379A>G | NP_001305754.1:p.Lys460Arg | |
| NR_134869.2:n.1131A>G | ||
| NR_134869.3:n.1131A>G |