Linked Data
ClinVar Variation Id:
2475820
ClinVar RCV Id:
RCV004267085
dbSNP Id:
rs1430009967
gnomAD v2:
16-84256401-A-G
gnomAD v4:
16-84222795-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84222795A>G , CM000678.2:g.84222795A>G | GRCh38 |
| NC_000016.9:g.84256401A>G , CM000678.1:g.84256401A>G | GRCh37 |
| NC_000016.8:g.82813902A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308251.6:c.982T>C MANE Select | ENSP00000312129.4:p.Tyr328His | |
| ENST00000308251.5:c.982T>C | ENSP00000312129.4:p.Tyr328His | |
| NM_172347.2:c.982T>C | NP_758857.1:p.Tyr328His | |
| NM_172347.3:c.982T>C MANE Select | NP_758857.1:p.Tyr328His |