Linked Data
dbSNP Id:
rs746684651
ExAC:
12:53045920 A / C
gnomAD v2:
12-53045920-A-C
gnomAD v4:
12-52652136-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52652136A>C , CM000674.2:g.52652136A>C | GRCh38 |
| NC_000012.11:g.53045920A>C , CM000674.1:g.53045920A>C | GRCh37 |
| NC_000012.10:g.51332187A>C | NCBI36 |
| NG_008296.1:g.5040T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.7T>G MANE Select | ENSP00000310861.3:p.Cys3Gly | |
| ENST00000309680.3:c.7T>G | ENSP00000310861.3:p.Cys3Gly | |
| NM_000423.2:c.7T>G | NP_000414.2:p.Cys3Gly | |
| NM_000423.3:c.7T>G MANE Select | NP_000414.2:p.Cys3Gly |