Linked Data
ClinVar Variation Id:
1652832
ClinVar RCV Id:
RCV002158548
dbSNP Id:
rs2140319674
gnomAD v4:
15-72345541-T-C
MyVariant Identifiers:
chr15:g.72637882T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72345541T>C , CM000677.2:g.72345541T>C | GRCh38 |
| NC_000015.9:g.72637882T>C , CM000677.1:g.72637882T>C | GRCh37 |
| NC_000015.8:g.70424936T>C | NCBI36 |
| NG_009017.1:g.35639A>G | |
| NG_009017.2:g.35639A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.*91A>G | ENSP00000457521.2:n.*91A>G | |
| ENST00000682061.1:c.*1777A>G | ENSP00000508316.1:n.*1777A>G | |
| ENST00000682064.1:n.1658A>G | ||
| ENST00000682177.1:c.1474A>G | ENSP00000507409.1:n.1474A>G | |
| ENST00000682235.1:n.1454A>G | ||
| ENST00000682461.1:c.1537A>G | ENSP00000507308.1:n.1537A>G | |
| ENST00000682653.1:n.2435A>G | ||
| ENST00000682657.1:c.*1268A>G | ENSP00000507753.1:n.*1268A>G | |
| ENST00000682721.1:c.*1234A>G | ENSP00000507535.1:n.*1234A>G | |
| ENST00000682843.1:c.*1072A>G | ENSP00000508173.1:n.*1072A>G | |
| ENST00000683003.1:c.*1268A>G | ENSP00000507576.1:n.*1268A>G | |
| ENST00000683133.1:c.1615A>G | ENSP00000508108.1:n.1615A>G | |
| ENST00000683243.1:c.*584A>G | ENSP00000507042.1:n.*584A>G | |
| ENST00000683463.1:c.*920A>G | ENSP00000507986.1:n.*920A>G | |
| ENST00000683548.1:n.1889A>G | ||
| ENST00000683579.1:c.*1329A>G | ENSP00000506867.1:n.*1329A>G | |
| ENST00000683587.1:n.1962A>G | ||
| ENST00000683681.1:c.*109A>G | ENSP00000508110.1:n.*109A>G | |
| ENST00000683735.1:c.*1829A>G | ENSP00000508336.1:n.*1829A>G | |
| ENST00000683853.1:c.*236A>G | ENSP00000506834.1:n.*236A>G | |
| ENST00000683860.1:c.*551A>G | ENSP00000507179.1:n.*551A>G | |
| ENST00000683884.1:c.*758A>G | ENSP00000507004.1:n.*758A>G | |
| ENST00000684041.1:c.*564A>G | ENSP00000508382.1:n.*564A>G | |
| ENST00000684125.1:c.*91A>G | ENSP00000507320.1:n.*91A>G | |
| ENST00000684203.1:n.3880A>G | ||
| ENST00000684231.1:c.*841A>G | ENSP00000507748.1:n.*841A>G | |
| ENST00000684263.1:c.*1055A>G | ENSP00000508369.1:n.*1055A>G | |
| ENST00000684305.1:c.1879A>G | ENSP00000506819.1:n.1879A>G | |
| ENST00000684415.1:c.*982A>G | ENSP00000507227.1:n.*982A>G | |
| ENST00000684520.1:c.*690A>G | ENSP00000506826.1:n.*690A>G | |
| ENST00000684602.1:c.*1097A>G | ENSP00000507996.1:n.*1097A>G | |
| ENST00000684667.1:c.1762A>G | ENSP00000507003.1:n.1762A>G | |
| ENST00000268097.10:c.1431A>G MANE Select | ENSP00000268097.6:p.Ala477= | |
| ENST00000268097.9:c.1431A>G | ENSP00000268097.5:p.Ala477= | |
| ENST00000379915.4:c.513A>G | ENSP00000478716.1:p.Ala171= | |
| ENST00000564677.5:n.223A>G | ||
| ENST00000565873.1:n.342A>G | ||
| ENST00000566304.5:c.1464A>G | ENSP00000455114.1:p.Ala488= | |
| ENST00000567027.5:c.1046A>G | ||
| ENST00000567159.5:c.1431A>G | ENSP00000456489.1:p.Ala477= | |
| ENST00000567411.5:c.*952A>G | ENSP00000455545.1:n.*952A>G | |
| ENST00000568777.5:n.6651A>G | ||
| ENST00000569116.1:n.138A>G | ||
| NM_000520.4:c.1431A>G | NP_000511.2:p.Ala477= | |
| NM_000520.5:c.1431A>G | NP_000511.2:p.Ala477= | |
| NM_001318825.1:c.1464A>G | NP_001305754.1:p.Ala488= | |
| NR_134869.1:n.1675A>G | ||
| NM_000520.6:c.1431A>G MANE Select | NP_000511.2:p.Ala477= | |
| NM_001318825.2:c.1464A>G | NP_001305754.1:p.Ala488= | |
| NR_134869.2:n.1216A>G | ||
| NR_134869.3:n.1216A>G |