Linked Data
ClinVar Variation Id:
440205
dbSNP Id:
rs4078354
ExAC:
15:77324880 A / G
gnomAD v2:
15-77324880-A-G
gnomAD v3:
15-77032539-A-G
gnomAD v4:
15-77032539-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.77032539A>G , CM000677.2:g.77032539A>G | GRCh38 |
| NC_000015.9:g.77324880A>G , CM000677.1:g.77324880A>G | GRCh37 |
| NC_000015.8:g.75111935A>G | NCBI36 |
| NG_007526.1:g.42416A>G , LRG_172:g.42416A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697622.1:n.1682A>G | ||
| ENST00000697623.1:n.2257+145A>G | ||
| ENST00000558012.6:c.838+145A>G MANE Select | ENSP00000452746.1:n.838+145A>G | |
| ENST00000379595.7:c.838+145A>G | ENSP00000368914.3:n.838+145A>G | |
| ENST00000557995.1:n.502+145A>G | ||
| ENST00000558012.5:c.838+145A>G | ENSP00000452746.1:n.838+145A>G | |
| ENST00000558870.1:c.78+145A>G | ||
| ENST00000559295.5:c.872+111A>G | ENSP00000452743.1:n.872+111A>G | |
| ENST00000559785.5:c.1067+111A>G | ENSP00000452986.1:n.1067+111A>G | |
| ENST00000560223.5:c.*940+145A>G | ENSP00000454118.1:n.*940+145A>G | |
| ENST00000560377.5:n.1224A>G | ||
| NM_003978.3:c.838+145A>G , LRG_172t1:c.838+145A>G | NP_003969.2:n.838+145A>G | |
| XM_006720737.2:c.472+145A>G | XP_006720800.1:n.472+145A>G | |
| XM_011522163.1:c.895+145A>G | XP_011520465.1:n.895+145A>G | |
| XM_011522164.1:c.793+145A>G | XP_011520466.1:n.793+145A>G | |
| XM_011522165.1:c.691+145A>G | XP_011520467.1:n.691+145A>G | |
| XM_011522166.1:c.929+111A>G | XP_011520468.1:n.929+111A>G | |
| XM_011522167.1:c.895+145A>G | XP_011520469.1:n.895+145A>G | |
| XM_011522168.1:c.895+145A>G | XP_011520470.1:n.895+145A>G | |
| XM_011522169.1:c.798+1261A>G | XP_011520471.1:n.798+1261A>G | |
| XM_011522170.1:c.371+2965A>G | XP_011520472.1:n.371+2965A>G | |
| XM_011522171.1:c.311+2965A>G | XP_011520473.1:n.311+2965A>G | |
| XM_011522172.1:c.311+2965A>G | XP_011520474.1:n.311+2965A>G | |
| XM_011522173.1:c.311+2965A>G | XP_011520475.1:n.311+2965A>G | |
| XR_931936.1:n.1379+111A>G | ||
| XR_931937.1:n.1322+111A>G | ||
| XR_931938.1:n.1345+145A>G | ||
| XR_931939.1:n.1248+1261A>G | ||
| XR_931940.1:n.1069+2965A>G | ||
| NM_001321135.1:c.872+111A>G | NP_001308064.1:n.872+111A>G | |
| NM_001321136.1:c.811+145A>G | NP_001308065.1:n.811+145A>G | |
| NM_001321137.1:c.1033+145A>G | NP_001308066.1:n.1033+145A>G | |
| NM_003978.4:c.838+145A>G | NP_003969.2:n.838+145A>G | |
| NR_135552.1:n.1150+1261A>G | ||
| XM_006720737.3:c.472+145A>G | XP_006720800.1:n.472+145A>G | |
| XM_011522163.2:c.895+145A>G | XP_011520465.1:n.895+145A>G | |
| XM_011522165.2:c.691+145A>G | XP_011520467.1:n.691+145A>G | |
| XM_011522166.2:c.929+111A>G | XP_011520468.1:n.929+111A>G | |
| XM_011522167.2:c.895+145A>G | XP_011520469.1:n.895+145A>G | |
| XM_011522168.3:c.895+145A>G | XP_011520470.1:n.895+145A>G | |
| XM_011522169.2:c.798+1261A>G | XP_011520471.1:n.798+1261A>G | |
| XR_931936.2:n.1377+111A>G | ||
| XR_931937.2:n.1320+111A>G | ||
| XR_931938.2:n.1343+145A>G | ||
| XR_931939.2:n.1246+1261A>G | ||
| NM_001321135.2:c.872+111A>G | NP_001308064.1:n.872+111A>G | |
| NM_001321136.2:c.811+145A>G | NP_001308065.1:n.811+145A>G | |
| NM_003978.5:c.838+145A>G MANE Select | NP_003969.2:n.838+145A>G | |
| NR_135552.2:n.1109+1261A>G |