Linked Data
ClinVar Variation Id:
291582
dbSNP Id:
rs145969842
ExAC:
1:10428592 G / A
gnomAD v2:
1-10428592-G-A
gnomAD v3:
1-10368534-G-A
gnomAD v4:
1-10368534-G-A
COSMIC:
COSM2116070
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10368534G>A , CM000663.2:g.10368534G>A | GRCh38 |
| NC_000001.10:g.10428592G>A , CM000663.1:g.10428592G>A | GRCh37 |
| NC_000001.9:g.10351179G>A | NCBI36 |
| NG_008069.1:g.162829G>A , LRG_252:g.162829G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696502.1:c.4883G>A | ENSP00000512668.1:p.Cys1628Tyr | |
| ENST00000696503.1:c.4745G>A | ENSP00000512669.1:p.Cys1582Tyr | |
| ENST00000696504.1:c.4745G>A | ENSP00000512670.1:p.Cys1582Tyr | |
| ENST00000676179.1:c.4820G>A MANE Select | ENSP00000502065.1:p.Cys1607Tyr | |
| ENST00000263934.10:c.4682G>A | ENSP00000263934.6:p.Cys1561Tyr | |
| ENST00000377081.5:c.4820G>A | ENSP00000366284.1:p.Cys1607Tyr | |
| ENST00000377086.5:c.4820G>A | ENSP00000366290.1:p.Cys1607Tyr | |
| ENST00000620295.2:c.4778G>A | ENSP00000478500.1:p.Cys1593Tyr | |
| ENST00000622724.3:c.4742G>A | ENSP00000480063.1:p.Cys1581Tyr | |
| ENST00000635499.1:c.865G>A | ||
| NM_015074.3:c.4682G>A , LRG_252t1:c.4682G>A | NP_055889.2:p.Cys1561Tyr | |
| NM_001365951.1:c.4820G>A | NP_001352880.1:p.Cys1607Tyr | |
| NM_001365952.1:c.4820G>A | NP_001352881.1:p.Cys1607Tyr | |
| NM_001365951.3:c.4820G>A MANE Select | NP_001352880.1:p.Cys1607Tyr |