Linked Data
ClinVar Variation Id:
2968304
ClinVar RCV Id:
RCV003821430
dbSNP Id:
rs758699821
ExAC:
15:77325273 G / A
gnomAD v2:
15-77325273-G-A
gnomAD v3:
15-77032932-G-A
gnomAD v4:
15-77032932-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.77032932G>A , CM000677.2:g.77032932G>A | GRCh38 |
| NC_000015.9:g.77325273G>A , CM000677.1:g.77325273G>A | GRCh37 |
| NC_000015.8:g.75112328G>A | NCBI36 |
| NG_007526.1:g.42809G>A , LRG_172:g.42809G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697622.1:n.2075G>A | ||
| ENST00000697623.1:n.2328G>A | ||
| ENST00000558012.6:c.909G>A MANE Select | ENSP00000452746.1:p.Pro303= | |
| ENST00000379595.7:c.909G>A | ENSP00000368914.3:p.Pro303= | |
| ENST00000557995.1:n.573G>A | ||
| ENST00000558012.5:c.909G>A | ENSP00000452746.1:p.Pro303= | |
| ENST00000558870.1:c.78+538G>A | ||
| ENST00000559295.5:c.872+504G>A | ENSP00000452743.1:n.872+504G>A | |
| ENST00000559785.5:c.1138G>A | ENSP00000452986.1:p.Val380Ile | |
| ENST00000560223.5:c.*1011G>A | ENSP00000454118.1:n.*1011G>A | |
| NM_003978.3:c.909G>A , LRG_172t1:c.909G>A | NP_003969.2:p.Pro303= | |
| XM_006720737.2:c.543G>A | XP_006720800.1:p.Pro181= | |
| XM_011522163.1:c.966G>A | XP_011520465.1:p.Pro322= | |
| XM_011522164.1:c.864G>A | XP_011520466.1:p.Pro288= | |
| XM_011522165.1:c.762G>A | XP_011520467.1:p.Pro254= | |
| XM_011522166.1:c.1000G>A | XP_011520468.1:p.Val334Ile | |
| XM_011522167.1:c.895+538G>A | XP_011520469.1:n.895+538G>A | |
| XM_011522168.1:c.966G>A | XP_011520470.1:p.Pro322= | |
| XM_011522169.1:c.798+1654G>A | XP_011520471.1:n.798+1654G>A | |
| XM_011522170.1:c.372-2576G>A | XP_011520472.1:n.372-2576G>A | |
| XM_011522171.1:c.312-2576G>A | XP_011520473.1:n.312-2576G>A | |
| XM_011522172.1:c.312-2576G>A | XP_011520474.1:n.312-2576G>A | |
| XM_011522173.1:c.312-2576G>A | XP_011520475.1:n.312-2576G>A | |
| XR_931936.1:n.1450G>A | ||
| XR_931937.1:n.1393G>A | ||
| XR_931938.1:n.1345+538G>A | ||
| XR_931939.1:n.1248+1654G>A | ||
| XR_931940.1:n.1070-2576G>A | ||
| NM_001321135.1:c.872+504G>A | NP_001308064.1:n.872+504G>A | |
| NM_001321136.1:c.882G>A | NP_001308065.1:p.Pro294= | |
| NM_001321137.1:c.1104G>A | NP_001308066.1:p.Pro368= | |
| NM_003978.4:c.909G>A | NP_003969.2:p.Pro303= | |
| NR_135552.1:n.1150+1654G>A | ||
| XM_006720737.3:c.543G>A | XP_006720800.1:p.Pro181= | |
| XM_011522163.2:c.966G>A | XP_011520465.1:p.Pro322= | |
| XM_011522165.2:c.762G>A | XP_011520467.1:p.Pro254= | |
| XM_011522166.2:c.1000G>A | XP_011520468.1:p.Val334Ile | |
| XM_011522167.2:c.895+538G>A | XP_011520469.1:n.895+538G>A | |
| XM_011522168.3:c.966G>A | XP_011520470.1:p.Pro322= | |
| XM_011522169.2:c.798+1654G>A | XP_011520471.1:n.798+1654G>A | |
| XR_931936.2:n.1448G>A | ||
| XR_931937.2:n.1391G>A | ||
| XR_931938.2:n.1343+538G>A | ||
| XR_931939.2:n.1246+1654G>A | ||
| NM_001321135.2:c.872+504G>A | NP_001308064.1:n.872+504G>A | |
| NM_001321136.2:c.882G>A | NP_001308065.1:p.Pro294= | |
| NM_003978.5:c.909G>A MANE Select | NP_003969.2:p.Pro303= | |
| NR_135552.2:n.1109+1654G>A |