Linked Data
dbSNP Id:
rs376095204
gnomAD v2:
12-53045811-C-G
gnomAD v3:
12-52652027-C-G
gnomAD v4:
12-52652027-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52652027C>G , CM000674.2:g.52652027C>G | GRCh38 |
| NC_000012.11:g.53045811C>G , CM000674.1:g.53045811C>G | GRCh37 |
| NC_000012.10:g.51332078C>G | NCBI36 |
| NG_008296.1:g.5149G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.116G>C MANE Select | ENSP00000310861.3:p.Ser39Thr | |
| ENST00000309680.3:c.116G>C | ENSP00000310861.3:p.Ser39Thr | |
| NM_000423.2:c.116G>C | NP_000414.2:p.Ser39Thr | |
| NM_000423.3:c.116G>C MANE Select | NP_000414.2:p.Ser39Thr |