Linked Data
ClinVar Variation Id:
591731
ClinVar RCV Id:
RCV000722912
dbSNP Id:
rs1565522472
gnomAD v4:
11-128839939-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128839939C>T , CM000673.2:g.128839939C>T | GRCh38 |
| NC_000011.9:g.128709834C>T , CM000673.1:g.128709834C>T | GRCh37 |
| NC_000011.8:g.128215044C>T | NCBI36 |
| NG_009379.1:g.32435G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.305G>A MANE Select | ENSP00000376434.1:p.Cys102Tyr | |
| ENST00000324003.3:c.305G>A | ENSP00000316136.3:p.Cys102Tyr | |
| ENST00000324036.7:c.305G>A | ENSP00000316233.3:p.Cys102Tyr | |
| ENST00000392664.2:c.362G>A | ENSP00000376432.2:p.Cys121Tyr | |
| ENST00000392665.6:c.305G>A | ENSP00000376433.2:p.Cys102Tyr | |
| ENST00000392666.5:c.305G>A | ENSP00000376434.1:p.Cys102Tyr | |
| ENST00000440599.6:c.305G>A | ENSP00000406320.2:p.Cys102Tyr | |
| NM_000220.4:c.362G>A | NP_000211.1:p.Cys121Tyr | |
| NM_153764.2:c.305G>A | NP_722448.1:p.Cys102Tyr | |
| NM_153765.2:c.356G>A | NP_722449.3:p.Cys119Tyr | |
| NM_153766.2:c.305G>A | NP_722450.1:p.Cys102Tyr | |
| NM_153767.3:c.305G>A | NP_722451.1:p.Cys102Tyr | |
| NM_000220.6:c.362G>A | NP_000211.1:p.Cys121Tyr | |
| NM_153764.3:c.305G>A | NP_722448.1:p.Cys102Tyr | |
| NM_153765.3:c.356G>A | NP_722449.3:p.Cys119Tyr | |
| NM_153766.3:c.305G>A MANE Select | NP_722450.1:p.Cys102Tyr | |
| NM_153767.4:c.305G>A | NP_722451.1:p.Cys102Tyr |