Linked Data
ClinVar Variation Id:
138821
dbSNP Id:
rs370745407
ExAC:
15:77317955 G / A
gnomAD v2:
15-77317955-G-A
gnomAD v3:
15-77025614-G-A
gnomAD v4:
15-77025614-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.77025614G>A , CM000677.2:g.77025614G>A | GRCh38 |
| NC_000015.9:g.77317955G>A , CM000677.1:g.77317955G>A | GRCh37 |
| NC_000015.8:g.75105010G>A | NCBI36 |
| NG_007526.1:g.35491G>A , LRG_172:g.35491G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697622.1:n.41-2244G>A | ||
| ENST00000697623.1:n.702+10G>A | ||
| ENST00000558012.6:c.354+10G>A MANE Select | ENSP00000452746.1:n.354+10G>A | |
| ENST00000379595.7:c.354+10G>A | ENSP00000368914.3:n.354+10G>A | |
| ENST00000558012.5:c.354+10G>A | ENSP00000452746.1:n.354+10G>A | |
| ENST00000559161.5:c.354+10G>A | ENSP00000453372.1:n.354+10G>A | |
| ENST00000559295.5:c.354+10G>A | ENSP00000452743.1:n.354+10G>A | |
| ENST00000559750.5:c.354+10G>A | ENSP00000453531.1:n.354+10G>A | |
| ENST00000559785.5:c.549+10G>A | ENSP00000452986.1:n.549+10G>A | |
| ENST00000559856.1:c.216+10G>A | ENSP00000453382.1:n.216+10G>A | |
| ENST00000559859.5:c.327+10G>A | ENSP00000453218.1:n.327+10G>A | |
| ENST00000560223.5:c.*456+10G>A | ENSP00000454118.1:n.*456+10G>A | |
| ENST00000560377.5:n.543+10G>A | ||
| ENST00000560796.5:c.252+10G>A | ENSP00000454127.1:n.252+10G>A | |
| NM_003978.3:c.354+10G>A , LRG_172t1:c.354+10G>A | NP_003969.2:n.354+10G>A | |
| XM_006720737.2:c.-65+10G>A | XP_006720800.1:n.-65+10G>A | |
| XM_011522163.1:c.354+10G>A | XP_011520465.1:n.354+10G>A | |
| XM_011522164.1:c.252+10G>A | XP_011520466.1:n.252+10G>A | |
| XM_011522165.1:c.150+10G>A | XP_011520467.1:n.150+10G>A | |
| XM_011522166.1:c.354+10G>A | XP_011520468.1:n.354+10G>A | |
| XM_011522167.1:c.354+10G>A | XP_011520469.1:n.354+10G>A | |
| XM_011522168.1:c.354+10G>A | XP_011520470.1:n.354+10G>A | |
| XM_011522169.1:c.354+10G>A | XP_011520471.1:n.354+10G>A | |
| XM_011522171.1:c.-2+10G>A | XP_011520473.1:n.-2+10G>A | |
| XM_011522172.1:c.-54+10G>A | XP_011520474.1:n.-54+10G>A | |
| XR_931936.1:n.804+10G>A | ||
| XR_931937.1:n.804+10G>A | ||
| XR_931938.1:n.804+10G>A | ||
| XR_931939.1:n.804+10G>A | ||
| XR_931940.1:n.804+10G>A | ||
| NM_001321135.1:c.354+10G>A | NP_001308064.1:n.354+10G>A | |
| NM_001321136.1:c.327+10G>A | NP_001308065.1:n.327+10G>A | |
| NM_001321137.1:c.549+10G>A | NP_001308066.1:n.549+10G>A | |
| NM_003978.4:c.354+10G>A | NP_003969.2:n.354+10G>A | |
| NR_135552.1:n.843+10G>A | ||
| XM_006720737.3:c.-65+10G>A | XP_006720800.1:n.-65+10G>A | |
| XM_011522163.2:c.354+10G>A | XP_011520465.1:n.354+10G>A | |
| XM_011522165.2:c.150+10G>A | XP_011520467.1:n.150+10G>A | |
| XM_011522166.2:c.354+10G>A | XP_011520468.1:n.354+10G>A | |
| XM_011522167.2:c.354+10G>A | XP_011520469.1:n.354+10G>A | |
| XM_011522168.3:c.354+10G>A | XP_011520470.1:n.354+10G>A | |
| XM_011522169.2:c.354+10G>A | XP_011520471.1:n.354+10G>A | |
| XR_931936.2:n.802+10G>A | ||
| XR_931937.2:n.802+10G>A | ||
| XR_931938.2:n.802+10G>A | ||
| XR_931939.2:n.802+10G>A | ||
| NM_001321135.2:c.354+10G>A | NP_001308064.1:n.354+10G>A | |
| NM_001321136.2:c.327+10G>A | NP_001308065.1:n.327+10G>A | |
| NM_003978.5:c.354+10G>A MANE Select | NP_003969.2:n.354+10G>A | |
| NR_135552.2:n.802+10G>A |