Linked Data
ClinVar Variation Id:
910988
ClinVar RCV Id:
RCV001163198
dbSNP Id:
rs754713031
ExAC:
7:95750985 T / C
gnomAD v2:
7-95750985-T-C
gnomAD v3:
7-96121673-T-C
gnomAD v4:
7-96121673-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96121673T>C , CM000669.2:g.96121673T>C | GRCh38 |
| NC_000007.13:g.95750985T>C , CM000669.1:g.95750985T>C | GRCh37 |
| NC_000007.12:g.95588921T>C | NCBI36 |
| NG_012247.1:g.205475A>G | |
| NG_012247.2:g.205475A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.1823A>G MANE Select | ENSP00000265631.6:p.Tyr608Cys | |
| ENST00000265631.9:c.1823A>G | ENSP00000265631.5:p.Tyr608Cys | |
| ENST00000416240.6:c.1826A>G | ENSP00000400101.2:p.Tyr609Cys | |
| ENST00000494085.1:n.326A>G | ||
| NM_001160210.1:c.1826A>G | NP_001153682.1:p.Tyr609Cys | |
| NM_014251.2:c.1823A>G | NP_055066.1:p.Tyr608Cys | |
| NR_027662.1:n.1898A>G | ||
| XM_006715831.2:c.1856A>G | XP_006715894.1:p.Tyr619Cys | |
| XM_011515728.1:c.971A>G | XP_011514030.1:p.Tyr324Cys | |
| XM_006715831.4:c.1856A>G | XP_006715894.1:p.Tyr619Cys | |
| XM_017011663.1:c.1814A>G | XP_016867152.1:p.Tyr605Cys | |
| XM_017011664.2:c.971A>G | XP_016867153.1:p.Tyr324Cys | |
| XM_017011665.1:c.971A>G | XP_016867154.1:p.Tyr324Cys | |
| XR_001744525.2:n.2069A>G | ||
| XR_002956405.1:n.2627A>G | ||
| NM_014251.3:c.1823A>G MANE Select | NP_055066.1:p.Tyr608Cys | |
| NR_027662.2:n.1849A>G | ||
| NM_001160210.2:c.1826A>G | NP_001153682.1:p.Tyr609Cys |