Linked Data
ClinVar Variation Id:
2418401
ClinVar RCV Id:
RCV003121150
dbSNP Id:
rs376929315
ExAC:
15:72637874 A / G
gnomAD v2:
15-72637874-A-G
gnomAD v3:
15-72345533-A-G
gnomAD v4:
15-72345533-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72345533A>G , CM000677.2:g.72345533A>G | GRCh38 |
| NC_000015.9:g.72637874A>G , CM000677.1:g.72637874A>G | GRCh37 |
| NC_000015.8:g.70424928A>G | NCBI36 |
| NG_009017.1:g.35647T>C | |
| NG_009017.2:g.35647T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.*99T>C | ENSP00000457521.2:n.*99T>C | |
| ENST00000682061.1:c.*1785T>C | ENSP00000508316.1:n.*1785T>C | |
| ENST00000682064.1:n.1666T>C | ||
| ENST00000682177.1:c.1482T>C | ENSP00000507409.1:n.1482T>C | |
| ENST00000682235.1:n.1462T>C | ||
| ENST00000682461.1:c.1545T>C | ENSP00000507308.1:n.1545T>C | |
| ENST00000682653.1:n.2443T>C | ||
| ENST00000682657.1:c.*1276T>C | ENSP00000507753.1:n.*1276T>C | |
| ENST00000682721.1:c.*1242T>C | ENSP00000507535.1:n.*1242T>C | |
| ENST00000682843.1:c.*1080T>C | ENSP00000508173.1:n.*1080T>C | |
| ENST00000683003.1:c.*1276T>C | ENSP00000507576.1:n.*1276T>C | |
| ENST00000683133.1:c.1623T>C | ENSP00000508108.1:n.1623T>C | |
| ENST00000683243.1:c.*592T>C | ENSP00000507042.1:n.*592T>C | |
| ENST00000683463.1:c.*928T>C | ENSP00000507986.1:n.*928T>C | |
| ENST00000683548.1:n.1897T>C | ||
| ENST00000683579.1:c.*1337T>C | ENSP00000506867.1:n.*1337T>C | |
| ENST00000683587.1:n.1970T>C | ||
| ENST00000683681.1:c.*117T>C | ENSP00000508110.1:n.*117T>C | |
| ENST00000683735.1:c.*1837T>C | ENSP00000508336.1:n.*1837T>C | |
| ENST00000683853.1:c.*244T>C | ENSP00000506834.1:n.*244T>C | |
| ENST00000683860.1:c.*559T>C | ENSP00000507179.1:n.*559T>C | |
| ENST00000683884.1:c.*766T>C | ENSP00000507004.1:n.*766T>C | |
| ENST00000684041.1:c.*572T>C | ENSP00000508382.1:n.*572T>C | |
| ENST00000684125.1:c.*99T>C | ENSP00000507320.1:n.*99T>C | |
| ENST00000684203.1:n.3888T>C | ||
| ENST00000684231.1:c.*849T>C | ENSP00000507748.1:n.*849T>C | |
| ENST00000684263.1:c.*1063T>C | ENSP00000508369.1:n.*1063T>C | |
| ENST00000684305.1:c.1887T>C | ENSP00000506819.1:n.1887T>C | |
| ENST00000684415.1:c.*990T>C | ENSP00000507227.1:n.*990T>C | |
| ENST00000684520.1:c.*698T>C | ENSP00000506826.1:n.*698T>C | |
| ENST00000684602.1:c.*1105T>C | ENSP00000507996.1:n.*1105T>C | |
| ENST00000684667.1:c.1770T>C | ENSP00000507003.1:n.1770T>C | |
| ENST00000268097.10:c.1439T>C MANE Select | ENSP00000268097.6:p.Val480Ala | |
| ENST00000268097.9:c.1439T>C | ENSP00000268097.5:p.Val480Ala | |
| ENST00000379915.4:c.521T>C | ENSP00000478716.1:p.Val174Ala | |
| ENST00000564677.5:n.231T>C | ||
| ENST00000565873.1:n.350T>C | ||
| ENST00000566304.5:c.1472T>C | ENSP00000455114.1:p.Val491Ala | |
| ENST00000567027.5:c.1054T>C | ||
| ENST00000567159.5:c.1439T>C | ENSP00000456489.1:p.Val480Ala | |
| ENST00000567411.5:c.*960T>C | ENSP00000455545.1:n.*960T>C | |
| ENST00000568777.5:n.6659T>C | ||
| ENST00000569116.1:n.146T>C | ||
| NM_000520.4:c.1439T>C | NP_000511.2:p.Val480Ala | |
| NM_000520.5:c.1439T>C | NP_000511.2:p.Val480Ala | |
| NM_001318825.1:c.1472T>C | NP_001305754.1:p.Val491Ala | |
| NR_134869.1:n.1683T>C | ||
| NM_000520.6:c.1439T>C MANE Select | NP_000511.2:p.Val480Ala | |
| NM_001318825.2:c.1472T>C | NP_001305754.1:p.Val491Ala | |
| NR_134869.2:n.1224T>C | ||
| NR_134869.3:n.1224T>C |