Linked Data
dbSNP Id:
rs1941484215
gnomAD v3:
12-52675385-T-G
gnomAD v4:
12-52675385-T-G
MyVariant Identifiers:
chr12:g.53069169T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675385T>G , CM000674.2:g.52675385T>G | GRCh38 |
| NC_000012.11:g.53069169T>G , CM000674.1:g.53069169T>G | GRCh37 |
| NC_000012.10:g.51355436T>G | NCBI36 |
| NG_008364.1:g.10023A>C | |
| NG_008364.2:g.10023A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1743A>C MANE Select | ENSP00000252244.3:p.Gly581= | |
| NM_006121.3:c.1743A>C | NP_006112.3:p.Gly581= | |
| NM_006121.4:c.1743A>C MANE Select | NP_006112.3:p.Gly581= |