Linked Data
ClinVar Variation Id:
1593453
ClinVar RCV Id:
RCV002112897
dbSNP Id:
rs368652670
ExAC:
6:90642373 G / A
gnomAD v2:
6-90642373-G-A
gnomAD v3:
6-89932654-G-A
gnomAD v4:
6-89932654-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.89932654G>A , CM000668.2:g.89932654G>A | GRCh38 |
| NC_000006.11:g.90642373G>A , CM000668.1:g.90642373G>A | GRCh37 |
| NC_000006.10:g.90699094G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406998.7:c.2280C>T | ENSP00000384145.3:p.Cys760= | |
| ENST00000453877.6:c.2280C>T | ENSP00000397668.2:p.Cys760= | |
| ENST00000695952.1:c.2280C>T | ENSP00000512284.1:p.Cys760= | |
| ENST00000257749.9:c.2280C>T MANE Select | ENSP00000257749.4:p.Cys760= | |
| ENST00000257749.8:c.2280C>T | ENSP00000257749.4:p.Cys760= | |
| ENST00000343122.7:c.2280C>T | ENSP00000345642.3:p.Cys760= | |
| ENST00000537989.5:c.2280C>T | ENSP00000437473.1:p.Cys760= | |
| NM_001170794.1:c.2280C>T | NP_001164265.1:p.Cys760= | |
| NM_021813.3:c.2280C>T | NP_068585.1:p.Cys760= | |
| XM_005248758.3:c.2388C>T | XP_005248815.1:p.Cys796= | |
| XM_005248759.3:c.2280C>T | XP_005248816.1:p.Cys760= | |
| XM_011536037.1:c.2280C>T | XP_011534339.1:p.Cys760= | |
| XM_011536038.1:c.2280C>T | XP_011534340.1:p.Cys760= | |
| XM_011536039.1:c.2280C>T | XP_011534341.1:p.Cys760= | |
| XM_011536040.1:c.2280C>T | XP_011534342.1:p.Cys760= | |
| XM_011536041.1:c.2280C>T | XP_011534343.1:p.Cys760= | |
| XM_005248758.5:c.2388C>T | XP_005248815.1:p.Cys796= | |
| XM_005248759.5:c.2280C>T | XP_005248816.1:p.Cys760= | |
| XM_011536039.3:c.2280C>T | XP_011534341.1:p.Cys760= | |
| XM_011536040.2:c.2280C>T | XP_011534342.1:p.Cys760= | |
| XM_017011166.2:c.2280C>T | XP_016866655.1:p.Cys760= | |
| XM_024446510.1:c.2538C>T | XP_024302278.1:p.Cys846= | |
| XM_024446511.1:c.2538C>T | XP_024302279.1:p.Cys846= | |
| XM_024446513.1:c.2280C>T | XP_024302281.1:p.Cys760= | |
| NM_021813.4:c.2280C>T MANE Select | NP_068585.1:p.Cys760= | |
| NM_001170794.2:c.2280C>T | NP_001164265.1:p.Cys760= |