Linked Data
ClinVar Variation Id:
1381900
ClinVar RCV Id:
RCV001897259
dbSNP Id:
rs763495243
gnomAD v2:
8-10480328-C-A
gnomAD v4:
8-10622818-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622818C>A , CM000670.2:g.10622818C>A | GRCh38 |
| NC_000008.10:g.10480328C>A , CM000670.1:g.10480328C>A | GRCh37 |
| NC_000008.9:g.10517738C>A | NCBI36 |
| NG_028035.1:g.37290G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.384G>T MANE Select | ENSP00000371923.3:p.Gln128His | |
| ENST00000329335.3:n.634G>T | ||
| ENST00000382483.3:c.384G>T | ENSP00000371923.3:p.Gln128His | |
| NM_178857.5:c.384G>T | NP_849188.4:p.Gln128His | |
| NM_178857.6:c.384G>T MANE Select | NP_849188.4:p.Gln128His |