Linked Data
ClinVar Variation Id:
4397
ClinVar RCV Id:
RCV000004647
RCV000505037
RCV000844690
RCV001376502
RCV001384937
RCV003466814
RCV003407275
dbSNP Id:
rs111033267
gnomAD v2:
3-150690307-G-T
gnomAD v3:
3-150972520-G-T
gnomAD v4:
3-150972520-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972520G>T , CM000665.2:g.150972520G>T | GRCh38 |
| NC_000003.11:g.150690307G>T , CM000665.1:g.150690307G>T | GRCh37 |
| NC_000003.10:g.152172997G>T | NCBI36 |
| NG_009168.1:g.5480C>A , LRG_700:g.5480C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.189C>A MANE Select | ENSP00000322280.1:p.Tyr63Ter | |
| ENST00000468836.2:c.165C>A | ENSP00000419892.2:p.Tyr55Ter | |
| ENST00000644099.1:c.30C>A | ENSP00000494762.1:p.Tyr10Ter | |
| ENST00000645441.1:c.31C>A | ||
| ENST00000327047.5:c.189C>A | ENSP00000322280.1:p.Tyr63Ter | |
| ENST00000328863.8:c.189C>A | ENSP00000329158.4:p.Tyr63Ter | |
| ENST00000468836.1:c.-212C>A | ENSP00000419892.1:n.-212C>A | |
| ENST00000472224.1:n.195C>A | ||
| NM_001195794.1:c.189C>A , LRG_700t1:c.189C>A | NP_001182723.1:p.Tyr63Ter | |
| NM_001256819.1:c.189C>A | NP_001243748.1:p.Tyr63Ter | |
| NM_174878.2:c.189C>A | NP_777367.1:p.Tyr63Ter | |
| NR_046380.2:n.480C>A | ||
| XR_924167.1:n.501C>A | ||
| NM_001256819.2:c.189C>A | NP_001243748.1:p.Tyr63Ter | |
| NM_174878.3:c.189C>A MANE Select | NP_777367.1:p.Tyr63Ter | |
| NR_046380.3:n.208C>A |