Linked Data
ClinVar Variation Id:
2035476
ClinVar RCV Id:
RCV002890057
dbSNP Id:
rs758802517
ExAC:
6:24291168 C / A
gnomAD v2:
6-24291168-C-A
gnomAD v3:
6-24290940-C-A
gnomAD v4:
6-24290940-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290940C>A , CM000668.2:g.24290940C>A | GRCh38 |
| NC_000006.11:g.24291168C>A , CM000668.1:g.24291168C>A | GRCh37 |
| NC_000006.10:g.24399147C>A | NCBI36 |
| NG_012829.1:g.72113G>T | |
| NG_012829.2:g.97353G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.696G>T MANE Select | ENSP00000367715.3:p.Arg232Ser | |
| ENST00000378454.7:c.696G>T | ENSP00000367715.3:p.Arg232Ser | |
| NM_001195610.1:c.696G>T | NP_001182539.1:p.Arg232Ser | |
| NM_016356.4:c.696G>T | NP_057440.2:p.Arg232Ser | |
| NM_016356.5:c.696G>T MANE Select | NP_057440.2:p.Arg232Ser | |
| NM_001195610.2:c.696G>T | NP_001182539.1:p.Arg232Ser |