Linked Data
ClinVar Variation Id:
359622
ClinVar RCV Id:
RCV000393983
dbSNP Id:
rs575476197
ExAC:
7:21641085 A / C
gnomAD v2:
7-21641085-A-C
gnomAD v3:
7-21601467-A-C
gnomAD v4:
7-21601467-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21601467A>C , CM000669.2:g.21601467A>C | GRCh38 |
| NC_000007.13:g.21641085A>C , CM000669.1:g.21641085A>C | GRCh37 |
| NC_000007.12:g.21607610A>C | NCBI36 |
| NG_012886.2:g.63253A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.3497A>C MANE Select | ENSP00000475939.1:p.His1166Pro | |
| ENST00000328843.10:c.3497A>C | ENSP00000330671.7:p.His1166Pro | |
| ENST00000409508.7:c.3497A>C | ENSP00000475939.1:p.His1166Pro | |
| ENST00000620169.4:c.3497A>C | ENSP00000481693.1:p.His1166Pro | |
| NM_001277115.1:c.3497A>C | NP_001264044.1:p.His1166Pro | |
| NM_001277115.2:c.3497A>C MANE Select | NP_001264044.1:p.His1166Pro |