Linked Data
ClinVar Variation Id:
1092936
ClinVar RCV Id:
RCV001412914
dbSNP Id:
rs2140319679
MyVariant Identifiers:
chr15:g.72637888G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72345547G>A , CM000677.2:g.72345547G>A | GRCh38 |
| NC_000015.9:g.72637888G>A , CM000677.1:g.72637888G>A | GRCh37 |
| NC_000015.8:g.70424942G>A | NCBI36 |
| NG_009017.1:g.35633C>T | |
| NG_009017.2:g.35633C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.*85C>T | ENSP00000457521.2:n.*85C>T | |
| ENST00000682061.1:c.*1771C>T | ENSP00000508316.1:n.*1771C>T | |
| ENST00000682064.1:n.1652C>T | ||
| ENST00000682177.1:c.1468C>T | ENSP00000507409.1:n.1468C>T | |
| ENST00000682235.1:n.1448C>T | ||
| ENST00000682461.1:c.1531C>T | ENSP00000507308.1:n.1531C>T | |
| ENST00000682653.1:n.2429C>T | ||
| ENST00000682657.1:c.*1262C>T | ENSP00000507753.1:n.*1262C>T | |
| ENST00000682721.1:c.*1228C>T | ENSP00000507535.1:n.*1228C>T | |
| ENST00000682843.1:c.*1066C>T | ENSP00000508173.1:n.*1066C>T | |
| ENST00000683003.1:c.*1262C>T | ENSP00000507576.1:n.*1262C>T | |
| ENST00000683133.1:c.1609C>T | ENSP00000508108.1:n.1609C>T | |
| ENST00000683243.1:c.*578C>T | ENSP00000507042.1:n.*578C>T | |
| ENST00000683463.1:c.*914C>T | ENSP00000507986.1:n.*914C>T | |
| ENST00000683548.1:n.1883C>T | ||
| ENST00000683579.1:c.*1323C>T | ENSP00000506867.1:n.*1323C>T | |
| ENST00000683587.1:n.1956C>T | ||
| ENST00000683681.1:c.*103C>T | ENSP00000508110.1:n.*103C>T | |
| ENST00000683735.1:c.*1823C>T | ENSP00000508336.1:n.*1823C>T | |
| ENST00000683853.1:c.*230C>T | ENSP00000506834.1:n.*230C>T | |
| ENST00000683860.1:c.*545C>T | ENSP00000507179.1:n.*545C>T | |
| ENST00000683884.1:c.*752C>T | ENSP00000507004.1:n.*752C>T | |
| ENST00000684041.1:c.*558C>T | ENSP00000508382.1:n.*558C>T | |
| ENST00000684125.1:c.*85C>T | ENSP00000507320.1:n.*85C>T | |
| ENST00000684203.1:n.3874C>T | ||
| ENST00000684231.1:c.*835C>T | ENSP00000507748.1:n.*835C>T | |
| ENST00000684263.1:c.*1049C>T | ENSP00000508369.1:n.*1049C>T | |
| ENST00000684305.1:c.1873C>T | ENSP00000506819.1:n.1873C>T | |
| ENST00000684415.1:c.*976C>T | ENSP00000507227.1:n.*976C>T | |
| ENST00000684520.1:c.*684C>T | ENSP00000506826.1:n.*684C>T | |
| ENST00000684602.1:c.*1091C>T | ENSP00000507996.1:n.*1091C>T | |
| ENST00000684667.1:c.1756C>T | ENSP00000507003.1:n.1756C>T | |
| ENST00000268097.10:c.1425C>T MANE Select | ENSP00000268097.6:p.Pro475= | |
| ENST00000268097.9:c.1425C>T | ENSP00000268097.5:p.Pro475= | |
| ENST00000379915.4:c.507C>T | ENSP00000478716.1:p.Pro169= | |
| ENST00000564677.5:n.217C>T | ||
| ENST00000565873.1:n.336C>T | ||
| ENST00000566304.5:c.1458C>T | ENSP00000455114.1:p.Pro486= | |
| ENST00000567027.5:c.1040C>T | ||
| ENST00000567159.5:c.1425C>T | ENSP00000456489.1:p.Pro475= | |
| ENST00000567411.5:c.*946C>T | ENSP00000455545.1:n.*946C>T | |
| ENST00000568777.5:n.6645C>T | ||
| ENST00000569116.1:n.132C>T | ||
| NM_000520.4:c.1425C>T | NP_000511.2:p.Pro475= | |
| NM_000520.5:c.1425C>T | NP_000511.2:p.Pro475= | |
| NM_001318825.1:c.1458C>T | NP_001305754.1:p.Pro486= | |
| NR_134869.1:n.1669C>T | ||
| NM_000520.6:c.1425C>T MANE Select | NP_000511.2:p.Pro475= | |
| NM_001318825.2:c.1458C>T | NP_001305754.1:p.Pro486= | |
| NR_134869.2:n.1210C>T | ||
| NR_134869.3:n.1210C>T |