Linked Data
ClinVar Variation Id:
1121875
ClinVar RCV Id:
RCV001452299
dbSNP Id:
rs199531564
ExAC:
7:23205373 C / T
gnomAD v2:
7-23205373-C-T
gnomAD v3:
7-23165754-C-T
gnomAD v4:
7-23165754-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.23165754C>T , CM000669.2:g.23165754C>T | GRCh38 |
| NC_000007.13:g.23205373C>T , CM000669.1:g.23205373C>T | GRCh37 |
| NC_000007.12:g.23171898C>T | NCBI36 |
| NG_016983.1:g.65021C>T | |
| NG_016983.2:g.65021C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339077.10:c.993C>T MANE Select | ENSP00000343273.4:p.Cys331= | |
| ENST00000339077.9:c.993C>T | ENSP00000343273.4:p.Cys331= | |
| ENST00000409689.5:c.849C>T | ENSP00000386263.1:p.Cys283= | |
| ENST00000521082.5:c.*1001C>T | ENSP00000430351.1:n.*1001C>T | |
| NM_001031710.2:c.993C>T | NP_001026880.2:p.Cys331= | |
| NM_018846.4:c.849C>T | NP_061334.4:p.Cys283= | |
| NR_033328.1:n.1417C>T | ||
| XM_006715753.1:c.1032C>T | XP_006715816.1:p.Cys344= | |
| XM_006715754.1:c.966C>T | XP_006715817.1:p.Cys322= | |
| XM_006715755.1:c.966C>T | XP_006715818.1:p.Cys322= | |
| XM_006715756.1:c.888C>T | XP_006715819.1:p.Cys296= | |
| XM_006715753.3:c.1032C>T | XP_006715816.1:p.Cys344= | |
| XM_006715754.3:c.966C>T | XP_006715817.1:p.Cys322= | |
| XM_006715755.3:c.966C>T | XP_006715818.1:p.Cys322= | |
| XM_006715756.3:c.888C>T | XP_006715819.1:p.Cys296= | |
| XM_017012439.2:c.927C>T | XP_016867928.1:p.Cys309= | |
| NM_001031710.3:c.993C>T MANE Select | NP_001026880.2:p.Cys331= | |
| NM_018846.5:c.849C>T | NP_061334.4:p.Cys283= | |
| NR_033328.2:n.1366C>T |