Linked Data
ClinVar Variation Id:
223232
ClinVar RCV Id:
RCV000208797
RCV000236099
RCV000565491
RCV000631260
RCV002485365
RCV003422117
RCV003462397
dbSNP Id:
rs561874453
ExAC:
3:10191561 A / G
gnomAD v2:
3-10191561-A-G
gnomAD v3:
3-10149877-A-G
gnomAD v4:
3-10149877-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149877A>G , CM000665.2:g.10149877A>G | GRCh38 |
| NC_000003.11:g.10191561A>G , CM000665.1:g.10191561A>G | GRCh37 |
| NC_000003.10:g.10166561A>G | NCBI36 |
| NG_008212.3:g.13243A>G , LRG_322:g.13243A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*231A>G | ENSP00000512434.1:n.*231A>G | |
| ENST00000696143.1:c.690A>G | ENSP00000512435.1:n.690A>G | |
| ENST00000696153.1:c.665A>G | ENSP00000512444.1:p.Tyr222Cys | |
| ENST00000256474.3:c.554A>G MANE Select | ENSP00000256474.3:p.Tyr185Cys | |
| ENST00000256474.2:c.554A>G | ENSP00000256474.2:p.Tyr185Cys | |
| ENST00000345392.2:c.431A>G | ENSP00000344757.2:p.Tyr144Cys | |
| ENST00000477538.1:n.690A>G | ||
| NM_000551.3:c.554A>G , LRG_322t1:c.554A>G | NP_000542.1:p.Tyr185Cys | |
| NM_198156.2:c.431A>G | NP_937799.1:p.Tyr144Cys | |
| NM_001354723.1:c.*108A>G | NP_001341652.1:n.*108A>G | |
| NM_000551.4:c.554A>G MANE Select | NP_000542.1:p.Tyr185Cys | |
| NM_001354723.2:c.*108A>G | NP_001341652.1:n.*108A>G | |
| NM_198156.3:c.431A>G | NP_937799.1:p.Tyr144Cys |