Linked Data
ClinVar Variation Id:
309859
dbSNP Id:
rs760255764
ExAC:
12:56436298 C / T
gnomAD v2:
12-56436298-C-T
gnomAD v3:
12-56042514-C-T
gnomAD v4:
12-56042514-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56042514C>T , CM000674.2:g.56042514C>T | GRCh38 |
| NC_000012.11:g.56436298C>T , CM000674.1:g.56436298C>T | GRCh37 |
| NC_000012.10:g.54722565C>T | NCBI36 |
| NG_023201.1:g.5613C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.93C>T | ENSP00000348849.5:p.Pro31= | |
| ENST00000646449.2:c.93C>T MANE Select | ENSP00000496643.1:p.Pro31= | |
| ENST00000356464.9:c.93C>T | ENSP00000348849.5:p.Pro31= | |
| ENST00000548590.1:n.120C>T | ||
| ENST00000552361.1:c.93C>T | ENSP00000450339.1:p.Pro31= | |
| NM_001029.3:c.93C>T | NP_001020.2:p.Pro31= | |
| NM_001029.5:c.93C>T MANE Select | NP_001020.2:p.Pro31= |