Linked Data
ClinVar Variation Id:
390041
dbSNP Id:
rs190680511
ExAC:
7:130044398 C / T
gnomAD v2:
7-130044398-C-T
gnomAD v3:
7-130404557-C-T
gnomAD v4:
7-130404557-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130404557C>T , CM000669.2:g.130404557C>T | GRCh38 |
| NC_000007.13:g.130044398C>T , CM000669.1:g.130044398C>T | GRCh37 |
| NC_000007.12:g.129831634C>T | NCBI36 |
| NG_032164.1:g.41654G>A | |
| NG_032164.2:g.41654G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223208.10:c.422+7G>A MANE Select | ENSP00000223208.4:n.422+7G>A | |
| ENST00000343969.10:c.422+7G>A | ENSP00000342738.6:n.422+7G>A | |
| ENST00000471201.6:c.635+7G>A | ENSP00000417463.2:n.635+7G>A | |
| ENST00000472739.6:c.317+7G>A | ENSP00000417593.2:n.317+7G>A | |
| ENST00000475282.6:c.317+7G>A | ENSP00000418363.2:n.317+7G>A | |
| ENST00000477003.6:c.422+7G>A | ENSP00000420670.2:n.422+7G>A | |
| ENST00000480206.2:c.422+7G>A | ENSP00000502099.1:n.422+7G>A | |
| ENST00000484549.6:c.*594+7G>A | ENSP00000419078.2:n.*594+7G>A | |
| ENST00000492389.6:c.442+7G>A | ENSP00000419192.2:n.442+7G>A | |
| ENST00000541543.6:c.413+7G>A | ENSP00000445888.2:n.413+7G>A | |
| ENST00000674539.1:c.422+7G>A | ENSP00000502834.1:n.422+7G>A | |
| ENST00000674630.1:c.346+83G>A | ENSP00000502521.1:n.346+83G>A | |
| ENST00000675138.1:c.467+7G>A | ENSP00000501597.1:n.467+7G>A | |
| ENST00000675168.1:c.374+7G>A | ENSP00000501563.1:n.374+7G>A | |
| ENST00000675328.1:n.232+7G>A | ||
| ENST00000675494.1:n.731+7G>A | ||
| ENST00000675542.1:n.387+7G>A | ||
| ENST00000675563.1:c.-188+7G>A | ENSP00000502483.1:n.-188+7G>A | |
| ENST00000675596.1:c.422+7G>A | ENSP00000501735.1:n.422+7G>A | |
| ENST00000675626.1:n.405+7G>A | ||
| ENST00000675649.1:c.422+7G>A | ENSP00000502385.1:n.422+7G>A | |
| ENST00000675721.1:c.*365+7G>A | ENSP00000502026.1:n.*365+7G>A | |
| ENST00000675803.1:c.383+7G>A | ENSP00000502477.1:n.383+7G>A | |
| ENST00000675813.1:c.*326+7G>A | ENSP00000502785.1:n.*326+7G>A | |
| ENST00000675935.1:c.422+7G>A | ENSP00000501731.1:n.422+7G>A | |
| ENST00000675962.1:c.374+7G>A | ENSP00000502478.1:n.374+7G>A | |
| ENST00000676115.1:c.*343+7G>A | ENSP00000502631.1:n.*343+7G>A | |
| ENST00000676243.1:c.422+7G>A | ENSP00000501717.1:n.422+7G>A | |
| ENST00000676312.1:c.383+7G>A | ENSP00000502312.1:n.383+7G>A | |
| ENST00000223208.9:c.422+7G>A | ENSP00000223208.4:n.422+7G>A | |
| ENST00000343969.9:c.422+7G>A | ENSP00000342738.5:n.422+7G>A | |
| ENST00000472739.5:c.317+7G>A | ENSP00000417593.1:n.317+7G>A | |
| ENST00000475282.5:c.317+7G>A | ENSP00000418363.1:n.317+7G>A | |
| ENST00000477003.5:c.413+7G>A | ENSP00000420670.1:n.413+7G>A | |
| ENST00000484549.5:c.346+83G>A | ENSP00000419078.1:n.346+83G>A | |
| ENST00000492389.5:c.317+7G>A | ENSP00000419192.1:n.317+7G>A | |
| ENST00000541543.5:c.374+7G>A | ENSP00000445888.1:n.374+7G>A | |
| NM_001257158.1:c.422+7G>A | NP_001244087.1:n.422+7G>A | |
| NM_001257159.1:c.374+7G>A | NP_001244088.1:n.374+7G>A | |
| NM_018718.2:c.422+7G>A | NP_061188.1:n.422+7G>A | |
| NR_046443.1:n.590+83G>A | ||
| XM_011516708.1:c.467+7G>A | XP_011515010.1:n.467+7G>A | |
| XM_011516709.1:c.317+7G>A | XP_011515011.1:n.317+7G>A | |
| XM_011516710.1:c.317+7G>A | XP_011515012.1:n.317+7G>A | |
| XM_011516711.1:c.317+7G>A | XP_011515013.1:n.317+7G>A | |
| XM_011516712.1:c.467+7G>A | XP_011515014.1:n.467+7G>A | |
| XM_011516709.3:c.317+7G>A | XP_011515011.1:n.317+7G>A | |
| XM_011516710.3:c.317+7G>A | XP_011515012.1:n.317+7G>A | |
| XM_024447004.1:c.383+7G>A | XP_024302772.1:n.383+7G>A | |
| NM_018718.3:c.422+7G>A MANE Select | NP_061188.1:n.422+7G>A | |
| NM_001257158.2:c.422+7G>A | NP_001244087.1:n.422+7G>A | |
| NR_046443.2:n.396+83G>A | ||
| NM_001257159.2:c.374+7G>A | NP_001244088.1:n.374+7G>A |