Linked Data
ClinVar Variation Id:
1674150
ClinVar RCV Id:
RCV002206456
dbSNP Id:
rs1365983427
gnomAD v4:
15-72346321-G-A
MyVariant Identifiers:
chr15:g.72638662G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72346321G>A , CM000677.2:g.72346321G>A | GRCh38 |
| NC_000015.9:g.72638662G>A , CM000677.1:g.72638662G>A | GRCh37 |
| NC_000015.8:g.70425716G>A | NCBI36 |
| NG_009017.1:g.34859C>T | |
| NG_009017.2:g.34859C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.1078C>T | ENSP00000457521.2:p.Pro360Ser | |
| ENST00000682061.1:c.*997C>T | ENSP00000508316.1:n.*997C>T | |
| ENST00000682064.1:n.878C>T | ||
| ENST00000682177.1:c.1378C>T | ENSP00000507409.1:n.1378C>T | |
| ENST00000682235.1:n.674C>T | ||
| ENST00000682461.1:c.1441C>T | ENSP00000507308.1:n.1441C>T | |
| ENST00000682653.1:n.1655C>T | ||
| ENST00000682657.1:c.*488C>T | ENSP00000507753.1:n.*488C>T | |
| ENST00000682721.1:c.*1138C>T | ENSP00000507535.1:n.*1138C>T | |
| ENST00000682843.1:c.*976C>T | ENSP00000508173.1:n.*976C>T | |
| ENST00000683003.1:c.*488C>T | ENSP00000507576.1:n.*488C>T | |
| ENST00000683133.1:c.1519C>T | ENSP00000508108.1:n.1519C>T | |
| ENST00000683243.1:c.*488C>T | ENSP00000507042.1:n.*488C>T | |
| ENST00000683463.1:c.*140C>T | ENSP00000507986.1:n.*140C>T | |
| ENST00000683548.1:n.1109C>T | ||
| ENST00000683579.1:c.*1233C>T | ENSP00000506867.1:n.*1233C>T | |
| ENST00000683587.1:n.1182C>T | ||
| ENST00000683681.1:c.1335C>T | ENSP00000508110.1:p.Thr445= | |
| ENST00000683735.1:c.*1049C>T | ENSP00000508336.1:n.*1049C>T | |
| ENST00000683853.1:c.*140C>T | ENSP00000506834.1:n.*140C>T | |
| ENST00000683860.1:c.1335C>T | ENSP00000507179.1:p.Thr445= | |
| ENST00000683884.1:c.1151C>T | ENSP00000507004.1:p.Pro384Leu | |
| ENST00000684041.1:c.1335C>T | ENSP00000508382.1:p.Thr445= | |
| ENST00000684125.1:c.1078C>T | ENSP00000507320.1:p.Pro360Ser | |
| ENST00000684203.1:n.3100C>T | ||
| ENST00000684231.1:c.*745C>T | ENSP00000507748.1:n.*745C>T | |
| ENST00000684263.1:c.*275C>T | ENSP00000508369.1:n.*275C>T | |
| ENST00000684305.1:c.1783C>T | ENSP00000506819.1:n.1783C>T | |
| ENST00000684415.1:c.*202C>T | ENSP00000507227.1:n.*202C>T | |
| ENST00000684520.1:c.1335C>T | ENSP00000506826.1:p.Thr445= | |
| ENST00000684602.1:c.*1001C>T | ENSP00000507996.1:n.*1001C>T | |
| ENST00000684667.1:c.1666C>T | ENSP00000507003.1:n.1666C>T | |
| ENST00000268097.10:c.1335C>T MANE Select | ENSP00000268097.6:p.Thr445= | |
| ENST00000268097.9:c.1335C>T | ENSP00000268097.5:p.Thr445= | |
| ENST00000379915.4:c.417C>T | ENSP00000478716.1:p.Thr139= | |
| ENST00000563762.5:c.830C>T | ENSP00000456346.1:n.830C>T | |
| ENST00000566304.5:c.1368C>T | ENSP00000455114.1:p.Thr456= | |
| ENST00000566672.5:c.*745C>T | ENSP00000457037.1:n.*745C>T | |
| ENST00000567027.5:c.950C>T | ||
| ENST00000567159.5:c.1335C>T | ENSP00000456489.1:p.Thr445= | |
| ENST00000567411.5:c.*856C>T | ENSP00000455545.1:n.*856C>T | |
| ENST00000568777.5:n.6555C>T | ||
| ENST00000569410.5:c.*140C>T | ENSP00000457125.1:n.*140C>T | |
| NM_000520.4:c.1335C>T | NP_000511.2:p.Thr445= | |
| NM_000520.5:c.1335C>T | NP_000511.2:p.Thr445= | |
| NM_001318825.1:c.1368C>T | NP_001305754.1:p.Thr456= | |
| NR_134869.1:n.1579C>T | ||
| NM_000520.6:c.1335C>T MANE Select | NP_000511.2:p.Thr445= | |
| NM_001318825.2:c.1368C>T | NP_001305754.1:p.Thr456= | |
| NR_134869.2:n.1120C>T | ||
| NR_134869.3:n.1120C>T |