Linked Data
ClinVar Variation Id:
384130
dbSNP Id:
rs142452124
ExAC:
7:130044564 T / A
gnomAD v2:
7-130044564-T-A
gnomAD v3:
7-130404723-T-A
gnomAD v4:
7-130404723-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130404723T>A , CM000669.2:g.130404723T>A | GRCh38 |
| NC_000007.13:g.130044564T>A , CM000669.1:g.130044564T>A | GRCh37 |
| NC_000007.12:g.129831800T>A | NCBI36 |
| NG_032164.1:g.41488A>T | |
| NG_032164.2:g.41488A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223208.10:c.278-15A>T MANE Select | ENSP00000223208.4:n.278-15A>T | |
| ENST00000343969.10:c.278-15A>T | ENSP00000342738.6:n.278-15A>T | |
| ENST00000471201.6:c.491-15A>T | ENSP00000417463.2:n.491-15A>T | |
| ENST00000472739.6:c.173-15A>T | ENSP00000417593.2:n.173-15A>T | |
| ENST00000475282.6:c.173-15A>T | ENSP00000418363.2:n.173-15A>T | |
| ENST00000477003.6:c.278-15A>T | ENSP00000420670.2:n.278-15A>T | |
| ENST00000480206.2:c.278-15A>T | ENSP00000502099.1:n.278-15A>T | |
| ENST00000484549.6:c.*450-15A>T | ENSP00000419078.2:n.*450-15A>T | |
| ENST00000492389.6:c.298-15A>T | ENSP00000419192.2:n.298-15A>T | |
| ENST00000541543.6:c.269-15A>T | ENSP00000445888.2:n.269-15A>T | |
| ENST00000674539.1:c.278-15A>T | ENSP00000502834.1:n.278-15A>T | |
| ENST00000674630.1:c.278-15A>T | ENSP00000502521.1:n.278-15A>T | |
| ENST00000675138.1:c.323-15A>T | ENSP00000501597.1:n.323-15A>T | |
| ENST00000675168.1:c.230-15A>T | ENSP00000501563.1:n.230-15A>T | |
| ENST00000675328.1:n.88-15A>T | ||
| ENST00000675494.1:n.587-15A>T | ||
| ENST00000675542.1:n.243-15A>T | ||
| ENST00000675563.1:c.-332-15A>T | ENSP00000502483.1:n.-332-15A>T | |
| ENST00000675596.1:c.278-15A>T | ENSP00000501735.1:n.278-15A>T | |
| ENST00000675626.1:n.261-15A>T | ||
| ENST00000675649.1:c.278-15A>T | ENSP00000502385.1:n.278-15A>T | |
| ENST00000675721.1:c.*221-15A>T | ENSP00000502026.1:n.*221-15A>T | |
| ENST00000675803.1:c.239-15A>T | ENSP00000502477.1:n.239-15A>T | |
| ENST00000675813.1:c.*182-15A>T | ENSP00000502785.1:n.*182-15A>T | |
| ENST00000675935.1:c.278-15A>T | ENSP00000501731.1:n.278-15A>T | |
| ENST00000675962.1:c.230-15A>T | ENSP00000502478.1:n.230-15A>T | |
| ENST00000676115.1:c.*199-15A>T | ENSP00000502631.1:n.*199-15A>T | |
| ENST00000676243.1:c.278-15A>T | ENSP00000501717.1:n.278-15A>T | |
| ENST00000676312.1:c.239-15A>T | ENSP00000502312.1:n.239-15A>T | |
| ENST00000223208.9:c.278-15A>T | ENSP00000223208.4:n.278-15A>T | |
| ENST00000343969.9:c.278-15A>T | ENSP00000342738.5:n.278-15A>T | |
| ENST00000471201.5:c.*182-15A>T | ENSP00000417463.1:n.*182-15A>T | |
| ENST00000472739.5:c.173-15A>T | ENSP00000417593.1:n.173-15A>T | |
| ENST00000475282.5:c.173-15A>T | ENSP00000418363.1:n.173-15A>T | |
| ENST00000477003.5:c.269-15A>T | ENSP00000420670.1:n.269-15A>T | |
| ENST00000484549.5:c.278-15A>T | ENSP00000419078.1:n.278-15A>T | |
| ENST00000492389.5:c.173-15A>T | ENSP00000419192.1:n.173-15A>T | |
| ENST00000541543.5:c.230-15A>T | ENSP00000445888.1:n.230-15A>T | |
| NM_001257158.1:c.278-15A>T | NP_001244087.1:n.278-15A>T | |
| NM_001257159.1:c.230-15A>T | NP_001244088.1:n.230-15A>T | |
| NM_018718.2:c.278-15A>T | NP_061188.1:n.278-15A>T | |
| NR_046443.1:n.522-15A>T | ||
| XM_011516708.1:c.323-15A>T | XP_011515010.1:n.323-15A>T | |
| XM_011516709.1:c.173-15A>T | XP_011515011.1:n.173-15A>T | |
| XM_011516710.1:c.173-15A>T | XP_011515012.1:n.173-15A>T | |
| XM_011516711.1:c.173-15A>T | XP_011515013.1:n.173-15A>T | |
| XM_011516712.1:c.323-15A>T | XP_011515014.1:n.323-15A>T | |
| XM_011516709.3:c.173-15A>T | XP_011515011.1:n.173-15A>T | |
| XM_011516710.3:c.173-15A>T | XP_011515012.1:n.173-15A>T | |
| XM_024447004.1:c.239-15A>T | XP_024302772.1:n.239-15A>T | |
| NM_018718.3:c.278-15A>T MANE Select | NP_061188.1:n.278-15A>T | |
| NM_001257158.2:c.278-15A>T | NP_001244087.1:n.278-15A>T | |
| NR_046443.2:n.328-15A>T | ||
| NM_001257159.2:c.230-15A>T | NP_001244088.1:n.230-15A>T |