Linked Data
dbSNP Id:
rs574869727
ExAC:
12:53045847 G / C
gnomAD v2:
12-53045847-G-C
gnomAD v4:
12-52652063-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52652063G>C , CM000674.2:g.52652063G>C | GRCh38 |
| NC_000012.11:g.53045847G>C , CM000674.1:g.53045847G>C | GRCh37 |
| NC_000012.10:g.51332114G>C | NCBI36 |
| NG_008296.1:g.5113C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.80C>G MANE Select | ENSP00000310861.3:p.Ala27Gly | |
| ENST00000309680.3:c.80C>G | ENSP00000310861.3:p.Ala27Gly | |
| NM_000423.2:c.80C>G | NP_000414.2:p.Ala27Gly | |
| NM_000423.3:c.80C>G MANE Select | NP_000414.2:p.Ala27Gly |