Linked Data
ClinVar Variation Id:
1392676
ClinVar RCV Id:
RCV001882238
dbSNP Id:
rs1841469345
gnomAD v4:
10-80275156-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275156T>C , CM000672.2:g.80275156T>C | GRCh38 |
| NC_000010.10:g.82034912T>C , CM000672.1:g.82034912T>C | GRCh37 |
| NC_000010.9:g.82024892T>C | NCBI36 |
| NG_008083.1:g.19523A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.812A>G MANE Select | ENSP00000361287.3:p.Tyr271Cys | |
| ENST00000372213.7:c.812A>G | ENSP00000361287.3:p.Tyr271Cys | |
| ENST00000480845.1:n.44A>G | ||
| ENST00000485270.5:n.324A>G | ||
| NM_000429.2:c.812A>G | NP_000420.1:p.Tyr271Cys | |
| XM_005269842.3:c.812A>G | XP_005269899.1:p.Tyr271Cys | |
| XM_005269843.3:c.689A>G | XP_005269900.1:p.Tyr230Cys | |
| NM_000429.3:c.812A>G MANE Select | NP_000420.1:p.Tyr271Cys |