Linked Data
ClinVar Variation Id:
1756496
ClinVar RCV Id:
RCV002364695
dbSNP Id:
rs541991367
ExAC:
8:19818506 G / C
gnomAD v2:
8-19818506-G-C
gnomAD v3:
8-19960995-G-C
gnomAD v4:
8-19960995-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19960995G>C , CM000670.2:g.19960995G>C | GRCh38 |
| NC_000008.10:g.19818506G>C , CM000670.1:g.19818506G>C | GRCh37 |
| NC_000008.9:g.19862786G>C | NCBI36 |
| NG_008855.1:g.26925G>C | |
| NG_008855.2:g.64279G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1234G>C MANE Select | ENSP00000497642.1:p.Asp412His | |
| ENST00000650478.1:c.174G>C | ENSP00000497560.1:n.174G>C | |
| ENST00000311322.8:c.1234G>C | ENSP00000309757.6:p.Asp412His | |
| NM_000237.2:c.1234G>C | NP_000228.1:p.Asp412His | |
| NM_000237.3:c.1234G>C MANE Select | NP_000228.1:p.Asp412His |