Linked Data
ClinVar Variation Id:
2077915
ClinVar RCV Id:
RCV002976708
dbSNP Id:
rs556325841
ExAC:
7:130040585 G / A
gnomAD v2:
7-130040585-G-A
gnomAD v3:
7-130400744-G-A
gnomAD v4:
7-130400744-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130400744G>A , CM000669.2:g.130400744G>A | GRCh38 |
| NC_000007.13:g.130040585G>A , CM000669.1:g.130040585G>A | GRCh37 |
| NC_000007.12:g.129827821G>A | NCBI36 |
| NG_032164.1:g.45467C>T | |
| NG_032164.2:g.45467C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223208.10:c.720C>T MANE Select | ENSP00000223208.4:p.Cys240= | |
| ENST00000343969.10:c.720C>T | ENSP00000342738.6:p.Cys240= | |
| ENST00000471201.6:c.933C>T | ENSP00000417463.2:p.Cys311= | |
| ENST00000472739.6:c.615C>T | ENSP00000417593.2:p.Cys205= | |
| ENST00000475282.6:c.615C>T | ENSP00000418363.2:p.Cys205= | |
| ENST00000477003.6:c.*322C>T | ENSP00000420670.2:n.*322C>T | |
| ENST00000480206.2:c.720C>T | ENSP00000502099.1:p.Cys240= | |
| ENST00000484549.6:c.*892C>T | ENSP00000419078.2:n.*892C>T | |
| ENST00000492389.6:c.740C>T | ENSP00000419192.2:n.740C>T | |
| ENST00000541543.6:c.711C>T | ENSP00000445888.2:p.Cys237= | |
| ENST00000674539.1:c.423-1705C>T | ENSP00000502834.1:n.423-1705C>T | |
| ENST00000674630.1:c.*266C>T | ENSP00000502521.1:n.*266C>T | |
| ENST00000675138.1:c.765C>T | ENSP00000501597.1:p.Cys255= | |
| ENST00000675168.1:c.672C>T | ENSP00000501563.1:p.Cys224= | |
| ENST00000675328.1:n.530C>T | ||
| ENST00000675542.1:n.685C>T | ||
| ENST00000675563.1:c.111C>T | ENSP00000502483.1:p.Cys37= | |
| ENST00000675596.1:c.720C>T | ENSP00000501735.1:p.Cys240= | |
| ENST00000675649.1:c.575-490C>T | ENSP00000502385.1:n.575-490C>T | |
| ENST00000675721.1:c.*663C>T | ENSP00000502026.1:n.*663C>T | |
| ENST00000675803.1:c.681C>T | ENSP00000502477.1:p.Cys227= | |
| ENST00000675813.1:c.*624C>T | ENSP00000502785.1:n.*624C>T | |
| ENST00000675935.1:c.711C>T | ENSP00000501731.1:p.Cys237= | |
| ENST00000675962.1:c.672C>T | ENSP00000502478.1:p.Cys224= | |
| ENST00000676115.1:c.*641C>T | ENSP00000502631.1:n.*641C>T | |
| ENST00000676243.1:c.720C>T | ENSP00000501717.1:p.Cys240= | |
| ENST00000676312.1:c.681C>T | ENSP00000502312.1:p.Cys227= | |
| ENST00000223208.9:c.720C>T | ENSP00000223208.4:p.Cys240= | |
| ENST00000343969.9:c.720C>T | ENSP00000342738.5:p.Cys240= | |
| ENST00000480206.1:n.185C>T | ||
| ENST00000484549.5:c.*266C>T | ENSP00000419078.1:n.*266C>T | |
| ENST00000485736.5:n.403C>T | ||
| ENST00000541543.5:c.672C>T | ENSP00000445888.1:p.Cys224= | |
| ENST00000603513.1:n.466C>T | ||
| NM_001257158.1:c.720C>T | NP_001244087.1:p.Cys240= | |
| NM_001257159.1:c.672C>T | NP_001244088.1:p.Cys224= | |
| NM_018718.2:c.720C>T | NP_061188.1:p.Cys240= | |
| NR_046443.1:n.888C>T | ||
| XM_011516708.1:c.765C>T | XP_011515010.1:p.Cys255= | |
| XM_011516709.1:c.615C>T | XP_011515011.1:p.Cys205= | |
| XM_011516710.1:c.615C>T | XP_011515012.1:p.Cys205= | |
| XM_011516711.1:c.615C>T | XP_011515013.1:p.Cys205= | |
| XM_011516712.1:c.765C>T | XP_011515014.1:p.Cys255= | |
| XM_011516709.3:c.615C>T | XP_011515011.1:p.Cys205= | |
| XM_011516710.3:c.615C>T | XP_011515012.1:p.Cys205= | |
| XM_024447004.1:c.681C>T | XP_024302772.1:p.Cys227= | |
| NM_018718.3:c.720C>T MANE Select | NP_061188.1:p.Cys240= | |
| NM_001257158.2:c.720C>T | NP_001244087.1:p.Cys240= | |
| NR_046443.2:n.694C>T | ||
| NM_001257159.2:c.672C>T | NP_001244088.1:p.Cys224= |