Linked Data
ClinVar Variation Id:
5077
ClinVar RCV Id:
RCV000005382
dbSNP Id:
rs72547544
gnomAD v2:
16-75513398-T-C
gnomAD v3:
16-75479500-T-C
gnomAD v4:
16-75479500-T-C
PubMed:
PMID:15013869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75479500T>C , CM000678.2:g.75479500T>C | GRCh38 |
| NC_000016.9:g.75513398T>C , CM000678.1:g.75513398T>C | GRCh37 |
| NC_000016.8:g.74070899T>C | NCBI36 |
| NG_016442.1:g.20529A>G | |
| NG_016442.2:g.20942A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332272.9:c.329A>G MANE Select | ENSP00000328983.4:p.Tyr110Cys | |
| ENST00000390664.3:c.329A>G | ENSP00000375079.2:p.Tyr110Cys | |
| ENST00000649341.1:c.329A>G | ENSP00000497635.1:p.Tyr110Cys | |
| ENST00000649824.1:c.329A>G | ENSP00000496806.1:p.Tyr110Cys | |
| ENST00000332272.8:c.329A>G | ENSP00000328983.4:p.Tyr110Cys | |
| ENST00000390664.2:c.329A>G | ENSP00000375079.2:p.Tyr110Cys | |
| NM_021615.4:c.329A>G | NP_067628.1:p.Tyr110Cys | |
| XM_005255955.3:c.329A>G | XP_005256012.1:p.Tyr110Cys | |
| XM_011523085.1:c.329A>G | XP_011521387.1:p.Tyr110Cys | |
| NM_021615.5:c.329A>G MANE Select | NP_067628.1:p.Tyr110Cys | |
| XM_005255955.5:c.329A>G | XP_005256012.1:p.Tyr110Cys | |
| XM_011523085.3:c.329A>G | XP_011521387.1:p.Tyr110Cys | |
| NR_163480.1:n.733+2317A>G | ||
| NR_163481.1:n.577+2317A>G |