Linked Data
ClinVar Variation Id:
4662
dbSNP Id:
rs121908164
gnomAD v2:
1-10425534-G-A
gnomAD v3:
1-10365476-G-A
gnomAD v4:
1-10365476-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10365476G>A , CM000663.2:g.10365476G>A | GRCh38 |
| NC_000001.10:g.10425534G>A , CM000663.1:g.10425534G>A | GRCh37 |
| NC_000001.9:g.10348121G>A | NCBI36 |
| NG_008069.1:g.159771G>A , LRG_252:g.159771G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696502.1:c.4643G>A | ENSP00000512668.1:p.Ser1548Asn | |
| ENST00000696503.1:c.4505G>A | ENSP00000512669.1:p.Ser1502Asn | |
| ENST00000696504.1:c.4505G>A | ENSP00000512670.1:p.Ser1502Asn | |
| ENST00000676179.1:c.4580G>A MANE Select | ENSP00000502065.1:p.Ser1527Asn | |
| ENST00000263934.10:c.4442G>A | ENSP00000263934.6:p.Ser1481Asn | |
| ENST00000377081.5:c.4580G>A | ENSP00000366284.1:p.Ser1527Asn | |
| ENST00000377086.5:c.4580G>A | ENSP00000366290.1:p.Ser1527Asn | |
| ENST00000470616.1:n.311G>A | ||
| ENST00000620295.2:c.4538G>A | ENSP00000478500.1:p.Ser1513Asn | |
| ENST00000622724.3:c.4502G>A | ENSP00000480063.1:p.Ser1501Asn | |
| ENST00000635499.1:c.625G>A | ||
| NM_015074.3:c.4442G>A , LRG_252t1:c.4442G>A | NP_055889.2:p.Ser1481Asn | |
| XR_946953.1:n.355+905C>T | ||
| NM_001365951.1:c.4580G>A | NP_001352880.1:p.Ser1527Asn | |
| NM_001365952.1:c.4580G>A | NP_001352881.1:p.Ser1527Asn | |
| XR_946953.2:n.230+905C>T | ||
| NM_001365951.3:c.4580G>A MANE Select | NP_001352880.1:p.Ser1527Asn |