Linked Data
ClinVar Variation Id:
410866
ClinVar RCV Id:
RCV000476838
dbSNP Id:
rs757349371
ExAC:
7:21583042 G / C
gnomAD v2:
7-21583042-G-C
gnomAD v3:
7-21543424-G-C
gnomAD v4:
7-21543424-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21543424G>C , CM000669.2:g.21543424G>C | GRCh38 |
| NC_000007.13:g.21583042G>C , CM000669.1:g.21583042G>C | GRCh37 |
| NC_000007.12:g.21549567G>C | NCBI36 |
| NG_012886.2:g.5210G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.179G>C MANE Select | ENSP00000475939.1:p.Arg60Pro | |
| ENST00000328843.10:c.179G>C | ENSP00000330671.7:p.Arg60Pro | |
| ENST00000409508.7:c.179G>C | ENSP00000475939.1:p.Arg60Pro | |
| ENST00000620169.4:c.179G>C | ENSP00000481693.1:p.Arg60Pro | |
| NM_001277115.1:c.179G>C | NP_001264044.1:p.Arg60Pro | |
| NM_001277115.2:c.179G>C MANE Select | NP_001264044.1:p.Arg60Pro |