Linked Data
ClinVar Variation Id:
537309
ClinVar RCV Id:
RCV000646129
dbSNP Id:
rs1440776773
gnomAD v2:
12-5154994-G-C
gnomAD v4:
12-5045828-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045828G>C , CM000674.2:g.5045828G>C | GRCh38 |
| NC_000012.11:g.5154994G>C , CM000674.1:g.5154994G>C | GRCh37 |
| NC_000012.10:g.5025255G>C | NCBI36 |
| NG_012198.1:g.6910G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252321.5:c.1681G>C MANE Select | ENSP00000252321.3:p.Gly561Arg | |
| ENST00000252321.4:c.1681G>C | ENSP00000252321.3:p.Gly561Arg | |
| NM_002234.3:c.1681G>C | NP_002225.2:p.Gly561Arg | |
| NM_002234.4:c.1681G>C MANE Select | NP_002225.2:p.Gly561Arg |