Linked Data
ClinVar Variation Id:
1332110
ClinVar RCV Id:
RCV001804626
dbSNP Id:
rs2137830360
gnomAD v4:
12-32841105-C-T
MyVariant Identifiers:
chr12:g.32994039C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32841105C>T , CM000674.2:g.32841105C>T | GRCh38 |
| NC_000012.11:g.32994039C>T , CM000674.1:g.32994039C>T | GRCh37 |
| NC_000012.10:g.32885306C>T | NCBI36 |
| NG_009000.1:g.60742G>A , LRG_398:g.60742G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700559.2:c.1479G>A | ENSP00000515065.2:p.Gly493= | |
| ENST00000700563.2:c.1479G>A | ENSP00000515066.2:p.Gly493= | |
| ENST00000700559.1:c.694G>A | ||
| ENST00000700560.1:n.694G>A | ||
| ENST00000700561.1:n.820G>A | ||
| ENST00000700563.1:c.1433G>A | ||
| ENST00000700564.1:n.1483G>A | ||
| ENST00000700565.1:n.1332G>A | ||
| ENST00000070846.11:c.1611G>A | ENSP00000070846.6:p.Gly537= | |
| ENST00000340811.9:c.1479G>A MANE Select | ENSP00000342800.5:p.Gly493= | |
| ENST00000070846.10:c.1611G>A | ENSP00000070846.6:p.Gly537= | |
| ENST00000340811.8:c.1479G>A | ENSP00000342800.4:p.Gly493= | |
| ENST00000613243.1:c.1611G>A | ENSP00000478295.1:p.Gly537= | |
| NM_001005242.2:c.1479G>A | NP_001005242.2:p.Gly493= | |
| NM_004572.3:c.1611G>A , LRG_398t1:c.1611G>A | NP_004563.2:p.Gly537= | |
| NM_001005242.3:c.1479G>A MANE Select | NP_001005242.2:p.Gly493= | |
| NM_004572.4:c.1611G>A | NP_004563.2:p.Gly537= |