Linked Data
dbSNP Id:
rs1941262089
gnomAD v3:
12-52652020-G-A
gnomAD v4:
12-52652020-G-A
MyVariant Identifiers:
chr12:g.53045804G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52652020G>A , CM000674.2:g.52652020G>A | GRCh38 |
| NC_000012.11:g.53045804G>A , CM000674.1:g.53045804G>A | GRCh37 |
| NC_000012.10:g.51332071G>A | NCBI36 |
| NG_008296.1:g.5156C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.123C>T MANE Select | ENSP00000310861.3:p.Ser41= | |
| ENST00000309680.3:c.123C>T | ENSP00000310861.3:p.Ser41= | |
| NM_000423.2:c.123C>T | NP_000414.2:p.Ser41= | |
| NM_000423.3:c.123C>T MANE Select | NP_000414.2:p.Ser41= |