Linked Data
ClinVar Variation Id:
899
ClinVar RCV Id:
RCV000000947
dbSNP Id:
rs121918178
gnomAD v2:
7-65432887-T-C
gnomAD v4:
7-65967900-T-C
PubMed:
PMID:7633414
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65967900T>C , CM000669.2:g.65967900T>C | GRCh38 |
| NC_000007.13:g.65432887T>C , CM000669.1:g.65432887T>C | GRCh37 |
| NC_000007.12:g.65070322T>C | NCBI36 |
| NG_016197.1:g.19415A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304895.9:c.1484A>G MANE Select | ENSP00000302728.4:p.Tyr495Cys | |
| ENST00000304895.8:c.1484A>G | ENSP00000302728.4:p.Tyr495Cys | |
| ENST00000421103.5:c.1046A>G | ENSP00000391390.1:p.Tyr349Cys | |
| ENST00000430730.5:c.*751A>G | ENSP00000411859.1:n.*751A>G | |
| ENST00000447929.5:c.*864A>G | ENSP00000411262.1:n.*864A>G | |
| ENST00000461622.1:n.9A>G | ||
| ENST00000462371.1:n.522A>G | ||
| ENST00000466883.5:n.1874A>G | ||
| NM_000181.3:c.1484A>G | NP_000172.2:p.Tyr495Cys | |
| NM_001284290.1:c.1046A>G | NP_001271219.1:p.Tyr349Cys | |
| NM_001293104.1:c.914A>G | NP_001280033.1:p.Tyr305Cys | |
| NM_001293105.1:c.827A>G | NP_001280034.1:p.Tyr276Cys | |
| NR_120531.1:n.1530A>G | ||
| XM_005250297.3:c.1331A>G | XP_005250354.1:p.Tyr444Cys | |
| XM_011516113.1:c.983A>G | XP_011514415.1:p.Tyr328Cys | |
| XM_011516114.1:c.812A>G | XP_011514416.1:p.Tyr271Cys | |
| XR_927461.1:n.1570A>G | ||
| XM_005250297.4:c.1331A>G | XP_005250354.1:p.Tyr444Cys | |
| XM_011516114.2:c.812A>G | XP_011514416.1:p.Tyr271Cys | |
| XM_017012091.1:c.830A>G | XP_016867580.1:p.Tyr277Cys | |
| XM_017012092.1:c.761A>G | XP_016867581.1:p.Tyr254Cys | |
| XM_017012093.2:c.659A>G | XP_016867582.1:p.Tyr220Cys | |
| XR_001744658.2:n.1291A>G | ||
| XR_001744659.2:n.1404A>G | ||
| XR_001744660.2:n.1336A>G | ||
| XR_001744661.2:n.1251A>G | ||
| XR_927461.3:n.1489A>G | ||
| NM_000181.4:c.1484A>G MANE Select | NP_000172.2:p.Tyr495Cys | |
| NM_001284290.2:c.1046A>G | NP_001271219.1:p.Tyr349Cys | |
| NM_001293104.2:c.914A>G | NP_001280033.1:p.Tyr305Cys | |
| NM_001293105.2:c.827A>G | NP_001280034.1:p.Tyr276Cys | |
| NR_120531.2:n.1429A>G |