Linked Data
ClinVar Variation Id:
5076
ClinVar RCV Id:
RCV000005381
dbSNP Id:
rs121917822
ExAC:
16:75513423 A / C
gnomAD v2:
16-75513423-A-C
gnomAD v3:
16-75479525-A-C
gnomAD v4:
16-75479525-A-C
PubMed:
PMID:15013869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75479525A>C , CM000678.2:g.75479525A>C | GRCh38 |
| NC_000016.9:g.75513423A>C , CM000678.1:g.75513423A>C | GRCh37 |
| NC_000016.8:g.74070924A>C | NCBI36 |
| NG_016442.1:g.20504T>G | |
| NG_016442.2:g.20917T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332272.9:c.304T>G MANE Select | ENSP00000328983.4:p.Cys102Gly | |
| ENST00000390664.3:c.304T>G | ENSP00000375079.2:p.Cys102Gly | |
| ENST00000649341.1:c.304T>G | ENSP00000497635.1:p.Cys102Gly | |
| ENST00000649824.1:c.304T>G | ENSP00000496806.1:p.Cys102Gly | |
| ENST00000332272.8:c.304T>G | ENSP00000328983.4:p.Cys102Gly | |
| ENST00000390664.2:c.304T>G | ENSP00000375079.2:p.Cys102Gly | |
| NM_021615.4:c.304T>G | NP_067628.1:p.Cys102Gly | |
| XM_005255955.3:c.304T>G | XP_005256012.1:p.Cys102Gly | |
| XM_011523085.1:c.304T>G | XP_011521387.1:p.Cys102Gly | |
| NM_021615.5:c.304T>G MANE Select | NP_067628.1:p.Cys102Gly | |
| XM_005255955.5:c.304T>G | XP_005256012.1:p.Cys102Gly | |
| XM_011523085.3:c.304T>G | XP_011521387.1:p.Cys102Gly | |
| NR_163480.1:n.733+2292T>G | ||
| NR_163481.1:n.577+2292T>G |