Linked Data
ClinVar Variation Id:
358935
dbSNP Id:
rs186685101
ExAC:
7:130038139 C / T
gnomAD v2:
7-130038139-C-T
gnomAD v3:
7-130398298-C-T
gnomAD v4:
7-130398298-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130398298C>T , CM000669.2:g.130398298C>T | GRCh38 |
| NC_000007.13:g.130038139C>T , CM000669.1:g.130038139C>T | GRCh37 |
| NC_000007.12:g.129825375C>T | NCBI36 |
| NG_032164.1:g.47913G>A | |
| NG_032164.2:g.47913G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223208.10:c.*593G>A MANE Select | ENSP00000223208.4:n.*593G>A | |
| ENST00000480206.2:c.*2227G>A | ENSP00000502099.1:n.*2227G>A | |
| ENST00000541543.6:c.*593G>A | ENSP00000445888.2:n.*593G>A | |
| ENST00000674539.1:c.*723G>A | ENSP00000502834.1:n.*723G>A | |
| ENST00000674630.1:c.*1261G>A | ENSP00000502521.1:n.*1261G>A | |
| ENST00000675168.1:c.*593G>A | ENSP00000501563.1:n.*593G>A | |
| ENST00000675328.1:n.1525G>A | ||
| ENST00000675542.1:n.1680G>A | ||
| ENST00000675596.1:c.*593G>A | ENSP00000501735.1:n.*593G>A | |
| ENST00000675649.1:c.*593G>A | ENSP00000502385.1:n.*593G>A | |
| ENST00000675721.1:c.*1658G>A | ENSP00000502026.1:n.*1658G>A | |
| ENST00000675813.1:c.*1619G>A | ENSP00000502785.1:n.*1619G>A | |
| ENST00000676115.1:c.*1636G>A | ENSP00000502631.1:n.*1636G>A | |
| ENST00000676243.1:c.*593G>A | ENSP00000501717.1:n.*593G>A | |
| ENST00000676312.1:c.*593G>A | ENSP00000502312.1:n.*593G>A | |
| ENST00000223208.9:c.*593G>A | ENSP00000223208.4:n.*593G>A | |
| ENST00000485736.5:n.1398G>A | ||
| ENST00000541543.5:c.*593G>A | ENSP00000445888.1:n.*593G>A | |
| NM_001257158.1:c.*593G>A | NP_001244087.1:n.*593G>A | |
| NM_001257159.1:c.*593G>A | NP_001244088.1:n.*593G>A | |
| NM_018718.2:c.*593G>A | NP_061188.1:n.*593G>A | |
| NR_046443.1:n.1883G>A | ||
| XM_011516708.1:c.*593G>A | XP_011515010.1:n.*593G>A | |
| XM_011516709.1:c.*593G>A | XP_011515011.1:n.*593G>A | |
| XM_011516710.1:c.*593G>A | XP_011515012.1:n.*593G>A | |
| XM_011516711.1:c.*593G>A | XP_011515013.1:n.*593G>A | |
| XM_011516712.1:c.*593G>A | XP_011515014.1:n.*593G>A | |
| XM_011516709.3:c.*593G>A | XP_011515011.1:n.*593G>A | |
| XM_011516710.3:c.*593G>A | XP_011515012.1:n.*593G>A | |
| XM_024447004.1:c.*593G>A | XP_024302772.1:n.*593G>A | |
| NM_018718.3:c.*593G>A MANE Select | NP_061188.1:n.*593G>A | |
| NM_001257158.2:c.*593G>A | NP_001244087.1:n.*593G>A | |
| NR_046443.2:n.1689G>A | ||
| NM_001257159.2:c.*593G>A | NP_001244088.1:n.*593G>A |