Linked Data
ClinVar Variation Id:
1901754
ClinVar RCV Id:
RCV002577208
dbSNP Id:
rs761073115
gnomAD v2:
8-94798538-C-A
gnomAD v4:
8-93786310-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93786310C>A , CM000670.2:g.93786310C>A | GRCh38 |
| NC_000008.10:g.94798538C>A , CM000670.1:g.94798538C>A | GRCh37 |
| NC_000008.9:g.94867714C>A | NCBI36 |
| NG_009190.1:g.36467C>A , LRG_688:g.36467C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1376C>A | ENSP00000314488.4:p.Pro459Gln | |
| ENST00000409623.8:c.1331C>A | ENSP00000386966.4:p.Pro444Gln | |
| ENST00000452276.6:c.1376C>A | ENSP00000388671.2:p.Pro459Gln | |
| ENST00000453906.6:c.494C>A | ENSP00000403035.2:p.Pro165Gln | |
| ENST00000520680.2:c.1376C>A | ENSP00000428785.2:p.Pro459Gln | |
| ENST00000521517.6:c.1376C>A | ENSP00000430740.2:p.Pro459Gln | |
| ENST00000681998.1:c.1197C>A | ENSP00000506773.1:n.1197C>A | |
| ENST00000682036.1:c.494C>A | ENSP00000508390.1:p.Pro165Gln | |
| ENST00000682577.1:c.1149C>A | ENSP00000506963.1:n.1149C>A | |
| ENST00000682624.1:c.*950C>A | ENSP00000508343.1:n.*950C>A | |
| ENST00000682700.1:c.1376C>A | ENSP00000507627.1:p.Pro459Gln | |
| ENST00000682744.1:n.914C>A | ||
| ENST00000682804.1:n.1199C>A | ||
| ENST00000682837.1:c.865C>A | ENSP00000507920.1:n.865C>A | |
| ENST00000682935.1:n.3426C>A | ||
| ENST00000682984.1:c.1037C>A | ENSP00000507209.1:p.Pro346Gln | |
| ENST00000683078.1:c.1131C>A | ENSP00000506796.1:n.1131C>A | |
| ENST00000683223.1:c.1108C>A | ENSP00000507685.1:n.1108C>A | |
| ENST00000683238.1:n.2600C>A | ||
| ENST00000683249.1:n.2973C>A | ||
| ENST00000683336.1:c.1197C>A | ENSP00000507695.1:n.1197C>A | |
| ENST00000683362.1:c.1037C>A | ENSP00000506985.1:p.Pro346Gln | |
| ENST00000683850.1:n.1299C>A | ||
| ENST00000683919.1:c.1306C>A | ENSP00000507617.1:n.1306C>A | |
| ENST00000683953.1:c.1287C>A | ENSP00000508375.1:n.1287C>A | |
| ENST00000684023.1:c.1353C>A | ENSP00000507461.1:n.1353C>A | |
| ENST00000684064.1:c.1067C>A | ENSP00000508192.1:p.Pro356Gln | |
| ENST00000684089.1:n.2926C>A | ||
| ENST00000684149.1:c.*555C>A | ENSP00000507943.1:n.*555C>A | |
| ENST00000684416.1:n.1335C>A | ||
| ENST00000684540.1:c.1306C>A | ENSP00000507987.1:n.1306C>A | |
| ENST00000453321.8:c.1376C>A MANE Select | ENSP00000389998.3:p.Pro459Gln | |
| ENST00000323130.7:c.1346C>A | ENSP00000314488.3:p.Pro449Gln | |
| ENST00000409623.7:c.1133C>A | ENSP00000386966.3:p.Pro378Gln | |
| ENST00000452276.5:c.1067C>A | ENSP00000388671.1:p.Pro356Gln | |
| ENST00000453321.7:c.1376C>A | ENSP00000389998.3:p.Pro459Gln | |
| ENST00000453906.5:c.494C>A | ENSP00000403035.1:p.Pro165Gln | |
| ENST00000474944.5:n.514C>A | ||
| ENST00000520680.1:c.198C>A | ||
| NM_001142301.1:c.1133C>A , LRG_688t2:c.1133C>A | NP_001135773.1:p.Pro378Gln | |
| NM_153704.5:c.1376C>A , LRG_688t1:c.1376C>A | NP_714915.3:p.Pro459Gln | |
| NR_024522.1:n.1447C>A | ||
| XM_006716686.2:c.1073C>A | XP_006716749.1:p.Pro358Gln | |
| XM_006716687.2:c.776C>A | XP_006716750.1:p.Pro259Gln | |
| XM_011517363.1:c.494C>A | XP_011515665.1:p.Pro165Gln | |
| XR_428387.1:n.1434C>A | ||
| XR_928360.1:n.1434C>A | ||
| XR_928361.1:n.1434C>A | ||
| XR_928362.1:n.1434C>A | ||
| XM_006716686.4:c.1073C>A | XP_006716749.1:p.Pro358Gln | |
| XM_011517363.3:c.494C>A | XP_011515665.1:p.Pro165Gln | |
| XM_024447326.1:c.722C>A | XP_024303094.1:p.Pro241Gln | |
| XR_001745619.2:n.1417C>A | ||
| XR_428387.2:n.1417C>A | ||
| XR_928360.3:n.1417C>A | ||
| XR_928362.3:n.1417C>A | ||
| NM_153704.6:c.1376C>A MANE Select | NP_714915.3:p.Pro459Gln | |
| NR_024522.2:n.1397C>A |