Linked Data
ClinVar Variation Id:
1934544
ClinVar RCV Id:
RCV002632028
dbSNP Id:
rs748123884
ExAC:
6:24302233 G / A
gnomAD v2:
6-24302233-G-A
gnomAD v3:
6-24302005-G-A
gnomAD v4:
6-24302005-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24302005G>A , CM000668.2:g.24302005G>A | GRCh38 |
| NC_000006.11:g.24302233G>A , CM000668.1:g.24302233G>A | GRCh37 |
| NC_000006.10:g.24410212G>A | NCBI36 |
| NG_012829.1:g.61048C>T | |
| NG_012829.2:g.86288C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.388C>T MANE Select | ENSP00000367715.3:p.Arg130Cys | |
| ENST00000378454.7:c.388C>T | ENSP00000367715.3:p.Arg130Cys | |
| NM_001195610.1:c.388C>T | NP_001182539.1:p.Arg130Cys | |
| NM_016356.4:c.388C>T | NP_057440.2:p.Arg130Cys | |
| NM_016356.5:c.388C>T MANE Select | NP_057440.2:p.Arg130Cys | |
| NM_001195610.2:c.388C>T | NP_001182539.1:p.Arg130Cys |