Linked Data
ClinVar Variation Id:
317036
ClinVar RCV Id:
RCV000329902
dbSNP Id:
rs112626309
gnomAD v2:
15-72635982-G-A
gnomAD v3:
15-72343641-G-A
gnomAD v4:
15-72343641-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72343641G>A , CM000677.2:g.72343641G>A | GRCh38 |
| NC_000015.9:g.72635982G>A , CM000677.1:g.72635982G>A | GRCh37 |
| NC_000015.8:g.70423036G>A | NCBI36 |
| NG_009017.1:g.37539C>T | |
| NG_009017.2:g.37539C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682064.1:n.2253C>T | ||
| ENST00000682235.1:n.2049C>T | ||
| ENST00000682461.1:c.2132C>T | ENSP00000507308.1:n.2132C>T | |
| ENST00000682653.1:n.4335C>T | ||
| ENST00000682721.1:c.*1829C>T | ENSP00000507535.1:n.*1829C>T | |
| ENST00000682843.1:c.*1667C>T | ENSP00000508173.1:n.*1667C>T | |
| ENST00000683133.1:c.2210C>T | ENSP00000508108.1:n.2210C>T | |
| ENST00000683243.1:c.*1179C>T | ENSP00000507042.1:n.*1179C>T | |
| ENST00000683463.1:c.*1515C>T | ENSP00000507986.1:n.*1515C>T | |
| ENST00000683548.1:n.2484C>T | ||
| ENST00000683579.1:c.*1924C>T | ENSP00000506867.1:n.*1924C>T | |
| ENST00000683587.1:n.2557C>T | ||
| ENST00000683735.1:c.*2424C>T | ENSP00000508336.1:n.*2424C>T | |
| ENST00000683853.1:c.*2136C>T | ENSP00000506834.1:n.*2136C>T | |
| ENST00000684125.1:c.*686C>T | ENSP00000507320.1:n.*686C>T | |
| ENST00000684203.1:n.4475C>T | ||
| ENST00000684231.1:c.*1436C>T | ENSP00000507748.1:n.*1436C>T | |
| ENST00000684263.1:c.*1650C>T | ENSP00000508369.1:n.*1650C>T | |
| ENST00000684305.1:c.2474C>T | ENSP00000506819.1:n.2474C>T | |
| ENST00000684602.1:c.*1692C>T | ENSP00000507996.1:n.*1692C>T | |
| ENST00000684667.1:c.2357C>T | ENSP00000507003.1:n.2357C>T | |
| ENST00000268097.10:c.*436C>T MANE Select | ENSP00000268097.6:n.*436C>T | |
| ENST00000268097.9:c.*436C>T | ENSP00000268097.5:n.*436C>T | |
| ENST00000379915.4:c.608+1805C>T | ENSP00000478716.1:n.608+1805C>T | |
| NM_000520.4:c.*436C>T | NP_000511.2:n.*436C>T | |
| NM_000520.5:c.*436C>T | NP_000511.2:n.*436C>T | |
| NM_001318825.1:c.*436C>T | NP_001305754.1:n.*436C>T | |
| NM_000520.6:c.*436C>T MANE Select | NP_000511.2:n.*436C>T | |
| NM_001318825.2:c.*436C>T | NP_001305754.1:n.*436C>T |