Linked Data
dbSNP Id:
rs372684240
gnomAD v2:
12-53045795-G-A
gnomAD v3:
12-52652011-G-A
gnomAD v4:
12-52652011-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52652011G>A , CM000674.2:g.52652011G>A | GRCh38 |
| NC_000012.11:g.53045795G>A , CM000674.1:g.53045795G>A | GRCh37 |
| NC_000012.10:g.51332062G>A | NCBI36 |
| NG_008296.1:g.5165C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.132C>T MANE Select | ENSP00000310861.3:p.Ser44= | |
| ENST00000309680.3:c.132C>T | ENSP00000310861.3:p.Ser44= | |
| NM_000423.2:c.132C>T | NP_000414.2:p.Ser44= | |
| NM_000423.3:c.132C>T MANE Select | NP_000414.2:p.Ser44= |