Linked Data
ClinVar Variation Id:
1571839
ClinVar RCV Id:
RCV002219319
dbSNP Id:
rs2137772420
gnomAD v4:
12-5044888-G-C
MyVariant Identifiers:
chr12:g.5154054G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044888G>C , CM000674.2:g.5044888G>C | GRCh38 |
| NC_000012.11:g.5154054G>C , CM000674.1:g.5154054G>C | GRCh37 |
| NC_000012.10:g.5024315G>C | NCBI36 |
| NG_012198.1:g.5970G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.741G>C MANE Select | ENSP00000252321.3:p.Gly247= | |
| ENST00000252321.4:c.741G>C | ENSP00000252321.3:p.Gly247= | |
| NM_002234.3:c.741G>C | NP_002225.2:p.Gly247= | |
| NM_002234.4:c.741G>C MANE Select | NP_002225.2:p.Gly247= |