Linked Data
ClinVar Variation Id:
2168839
ClinVar RCV Id:
RCV003082771
dbSNP Id:
rs1179136996
gnomAD v2:
15-72637825-G-C
gnomAD v3:
15-72345484-G-C
gnomAD v4:
15-72345484-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72345484G>C , CM000677.2:g.72345484G>C | GRCh38 |
| NC_000015.9:g.72637825G>C , CM000677.1:g.72637825G>C | GRCh37 |
| NC_000015.8:g.70424879G>C | NCBI36 |
| NG_009017.1:g.35696C>G | |
| NG_009017.2:g.35696C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567027.6:c.*148C>G | ENSP00000457521.2:n.*148C>G | |
| ENST00000682061.1:c.*1834C>G | ENSP00000508316.1:n.*1834C>G | |
| ENST00000682064.1:n.1715C>G | ||
| ENST00000682177.1:c.1531C>G | ENSP00000507409.1:n.1531C>G | |
| ENST00000682235.1:n.1511C>G | ||
| ENST00000682461.1:c.1594C>G | ENSP00000507308.1:n.1594C>G | |
| ENST00000682653.1:n.2492C>G | ||
| ENST00000682657.1:c.*1325C>G | ENSP00000507753.1:n.*1325C>G | |
| ENST00000682721.1:c.*1291C>G | ENSP00000507535.1:n.*1291C>G | |
| ENST00000682843.1:c.*1129C>G | ENSP00000508173.1:n.*1129C>G | |
| ENST00000683003.1:c.*1325C>G | ENSP00000507576.1:n.*1325C>G | |
| ENST00000683133.1:c.1672C>G | ENSP00000508108.1:n.1672C>G | |
| ENST00000683243.1:c.*641C>G | ENSP00000507042.1:n.*641C>G | |
| ENST00000683463.1:c.*977C>G | ENSP00000507986.1:n.*977C>G | |
| ENST00000683548.1:n.1946C>G | ||
| ENST00000683579.1:c.*1386C>G | ENSP00000506867.1:n.*1386C>G | |
| ENST00000683587.1:n.2019C>G | ||
| ENST00000683681.1:c.*166C>G | ENSP00000508110.1:n.*166C>G | |
| ENST00000683735.1:c.*1886C>G | ENSP00000508336.1:n.*1886C>G | |
| ENST00000683853.1:c.*293C>G | ENSP00000506834.1:n.*293C>G | |
| ENST00000683860.1:c.*608C>G | ENSP00000507179.1:n.*608C>G | |
| ENST00000683884.1:c.*815C>G | ENSP00000507004.1:n.*815C>G | |
| ENST00000684041.1:c.*621C>G | ENSP00000508382.1:n.*621C>G | |
| ENST00000684125.1:c.*148C>G | ENSP00000507320.1:n.*148C>G | |
| ENST00000684203.1:n.3937C>G | ||
| ENST00000684231.1:c.*898C>G | ENSP00000507748.1:n.*898C>G | |
| ENST00000684263.1:c.*1112C>G | ENSP00000508369.1:n.*1112C>G | |
| ENST00000684305.1:c.1936C>G | ENSP00000506819.1:n.1936C>G | |
| ENST00000684415.1:c.*1039C>G | ENSP00000507227.1:n.*1039C>G | |
| ENST00000684520.1:c.*747C>G | ENSP00000506826.1:n.*747C>G | |
| ENST00000684602.1:c.*1154C>G | ENSP00000507996.1:n.*1154C>G | |
| ENST00000684667.1:c.1819C>G | ENSP00000507003.1:n.1819C>G | |
| ENST00000268097.10:c.1488C>G MANE Select | ENSP00000268097.6:p.Ala496= | |
| ENST00000268097.9:c.1488C>G | ENSP00000268097.5:p.Ala496= | |
| ENST00000379915.4:c.570C>G | ENSP00000478716.1:p.Ala190= | |
| ENST00000564677.5:n.280C>G | ||
| ENST00000565873.1:n.399C>G | ||
| ENST00000566304.5:c.1521C>G | ENSP00000455114.1:p.Ala507= | |
| ENST00000567027.5:c.1103C>G | ||
| ENST00000567159.5:c.1488C>G | ENSP00000456489.1:p.Ala496= | |
| ENST00000567411.5:c.*1009C>G | ENSP00000455545.1:n.*1009C>G | |
| ENST00000568777.5:n.6708C>G | ||
| ENST00000569116.1:n.195C>G | ||
| NM_000520.4:c.1488C>G | NP_000511.2:p.Ala496= | |
| NM_000520.5:c.1488C>G | NP_000511.2:p.Ala496= | |
| NM_001318825.1:c.1521C>G | NP_001305754.1:p.Ala507= | |
| NR_134869.1:n.1732C>G | ||
| NM_000520.6:c.1488C>G MANE Select | NP_000511.2:p.Ala496= | |
| NM_001318825.2:c.1521C>G | NP_001305754.1:p.Ala507= | |
| NR_134869.2:n.1273C>G | ||
| NR_134869.3:n.1273C>G |