Linked Data
ClinVar Variation Id:
2805525
ClinVar RCV Id:
RCV003610054
gnomAD v4:
15-72345556-G-A
MyVariant Identifiers:
chr15:g.72637897G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72345556G>A , CM000677.2:g.72345556G>A | GRCh38 |
| NC_000015.9:g.72637897G>A , CM000677.1:g.72637897G>A | GRCh37 |
| NC_000015.8:g.70424951G>A | NCBI36 |
| NG_009017.1:g.35624C>T | |
| NG_009017.2:g.35624C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.*82-6C>T | ENSP00000457521.2:n.*82-6C>T | |
| ENST00000682061.1:c.*1762C>T | ENSP00000508316.1:n.*1762C>T | |
| ENST00000682064.1:n.1643C>T | ||
| ENST00000682177.1:c.1465-6C>T | ENSP00000507409.1:n.1465-6C>T | |
| ENST00000682235.1:n.1439C>T | ||
| ENST00000682461.1:c.1528-6C>T | ENSP00000507308.1:n.1528-6C>T | |
| ENST00000682653.1:n.2420C>T | ||
| ENST00000682657.1:c.*1253C>T | ENSP00000507753.1:n.*1253C>T | |
| ENST00000682721.1:c.*1225-6C>T | ENSP00000507535.1:n.*1225-6C>T | |
| ENST00000682843.1:c.*1063-6C>T | ENSP00000508173.1:n.*1063-6C>T | |
| ENST00000683003.1:c.*1253C>T | ENSP00000507576.1:n.*1253C>T | |
| ENST00000683133.1:c.1606-6C>T | ENSP00000508108.1:n.1606-6C>T | |
| ENST00000683243.1:c.*575-6C>T | ENSP00000507042.1:n.*575-6C>T | |
| ENST00000683463.1:c.*905C>T | ENSP00000507986.1:n.*905C>T | |
| ENST00000683548.1:n.1874C>T | ||
| ENST00000683579.1:c.*1320-6C>T | ENSP00000506867.1:n.*1320-6C>T | |
| ENST00000683587.1:n.1947C>T | ||
| ENST00000683681.1:c.*100-6C>T | ENSP00000508110.1:n.*100-6C>T | |
| ENST00000683735.1:c.*1814C>T | ENSP00000508336.1:n.*1814C>T | |
| ENST00000683853.1:c.*227-6C>T | ENSP00000506834.1:n.*227-6C>T | |
| ENST00000683860.1:c.*536C>T | ENSP00000507179.1:n.*536C>T | |
| ENST00000683884.1:c.*743C>T | ENSP00000507004.1:n.*743C>T | |
| ENST00000684041.1:c.*555-6C>T | ENSP00000508382.1:n.*555-6C>T | |
| ENST00000684125.1:c.*82-6C>T | ENSP00000507320.1:n.*82-6C>T | |
| ENST00000684203.1:n.3865C>T | ||
| ENST00000684231.1:c.*832-6C>T | ENSP00000507748.1:n.*832-6C>T | |
| ENST00000684263.1:c.*1040C>T | ENSP00000508369.1:n.*1040C>T | |
| ENST00000684305.1:c.1870-6C>T | ENSP00000506819.1:n.1870-6C>T | |
| ENST00000684415.1:c.*967C>T | ENSP00000507227.1:n.*967C>T | |
| ENST00000684520.1:c.*675C>T | ENSP00000506826.1:n.*675C>T | |
| ENST00000684602.1:c.*1088-6C>T | ENSP00000507996.1:n.*1088-6C>T | |
| ENST00000684667.1:c.1753-6C>T | ENSP00000507003.1:n.1753-6C>T | |
| ENST00000268097.10:c.1422-6C>T MANE Select | ENSP00000268097.6:n.1422-6C>T | |
| ENST00000268097.9:c.1422-6C>T | ENSP00000268097.5:n.1422-6C>T | |
| ENST00000379915.4:c.504-6C>T | ENSP00000478716.1:n.504-6C>T | |
| ENST00000564677.5:n.214-6C>T | ||
| ENST00000565873.1:n.327C>T | ||
| ENST00000566304.5:c.1455-6C>T | ENSP00000455114.1:n.1455-6C>T | |
| ENST00000567027.5:c.1037-6C>T | ||
| ENST00000567159.5:c.1422-6C>T | ENSP00000456489.1:n.1422-6C>T | |
| ENST00000567411.5:c.*943-6C>T | ENSP00000455545.1:n.*943-6C>T | |
| ENST00000568777.5:n.6642-6C>T | ||
| ENST00000569116.1:n.129-6C>T | ||
| NM_000520.4:c.1422-6C>T | NP_000511.2:n.1422-6C>T | |
| NM_000520.5:c.1422-6C>T | NP_000511.2:n.1422-6C>T | |
| NM_001318825.1:c.1455-6C>T | NP_001305754.1:n.1455-6C>T | |
| NR_134869.1:n.1666-6C>T | ||
| NM_000520.6:c.1422-6C>T MANE Select | NP_000511.2:n.1422-6C>T | |
| NM_001318825.2:c.1455-6C>T | NP_001305754.1:n.1455-6C>T | |
| NR_134869.2:n.1207-6C>T | ||
| NR_134869.3:n.1207-6C>T |