Linked Data
ClinVar Variation Id:
2153255
ClinVar RCV Id:
RCV003077517
dbSNP Id:
rs773096421
ExAC:
19:50333784 G / A
gnomAD v2:
19-50333784-G-A
gnomAD v3:
19-49830527-G-A
gnomAD v4:
19-49830527-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49830527G>A , CM000681.2:g.49830527G>A | GRCh38 |
| NC_000019.9:g.50333784G>A , CM000681.1:g.50333784G>A | GRCh37 |
| NC_000019.8:g.55025596G>A | NCBI36 |
| NG_017091.1:g.17249G>A , LRG_368:g.17249G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593767.3:c.836G>A | ENSP00000470692.3:p.Ser279Asn | |
| ENST00000312865.10:c.836G>A MANE Select | ENSP00000326767.5:p.Ser279Asn | |
| ENST00000538643.5:c.197G>A | ENSP00000437496.1:p.Ser66Asn | |
| ENST00000595185.5:c.688+579G>A | ENSP00000470027.1:n.688+579G>A | |
| ENST00000612791.4:c.761+365G>A | ENSP00000479851.1:n.761+365G>A | |
| ENST00000612854.4:c.450+1512G>A | ENSP00000482155.1:n.450+1512G>A | |
| ENST00000617849.4:c.158-212G>A | ENSP00000484882.1:n.158-212G>A | |
| ENST00000618715.4:c.158-211G>A | ENSP00000480731.1:n.158-211G>A | |
| ENST00000620467.4:c.836G>A | ENSP00000482659.1:p.Ser279Asn | |
| ENST00000622402.4:c.146-5300G>A | ENSP00000478074.1:n.146-5300G>A | |
| NM_030973.3:c.836G>A , LRG_368t1:c.836G>A | NP_112235.2:p.Ser279Asn | |
| XM_011527353.1:c.836G>A | XP_011525655.1:p.Ser279Asn | |
| NM_001378355.1:c.836G>A | NP_001365284.1:p.Ser279Asn | |
| NM_030973.4:c.836G>A MANE Select | NP_112235.2:p.Ser279Asn |