Linked Data
ClinVar Variation Id:
281367
ClinVar RCV Id:
RCV000724881
dbSNP Id:
rs143863270
ExAC:
11:1861802 G / A
gnomAD v2:
11-1861802-G-A
gnomAD v3:
11-1840572-G-A
gnomAD v4:
11-1840572-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1840572G>A , CM000673.2:g.1840572G>A | GRCh38 |
| NC_000011.9:g.1861802G>A , CM000673.1:g.1861802G>A | GRCh37 |
| NC_000011.8:g.1818378G>A | NCBI36 |
| NG_011621.1:g.6570G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381911.6:c.102G>A MANE Select | ENSP00000371336.1:p.Glu34= | |
| ENST00000252898.11:c.102G>A | ENSP00000252898.7:p.Glu34= | |
| ENST00000381905.3:c.102G>A | ENSP00000371330.3:p.Glu34= | |
| ENST00000381906.5:c.102G>A | ENSP00000371331.1:p.Glu34= | |
| ENST00000381911.5:c.102G>A | ENSP00000371336.1:p.Glu34= | |
| ENST00000468473.1:n.272G>A | ||
| ENST00000617947.4:c.102G>A | ENSP00000481242.1:p.Glu34= | |
| NM_001145829.1:c.102G>A | NP_001139301.1:p.Glu34= | |
| NM_001145841.1:c.102G>A | NP_001139313.1:p.Glu34= | |
| NM_003282.3:c.102G>A | NP_003273.1:p.Glu34= | |
| NM_003282.4:c.102G>A MANE Select | NP_003273.1:p.Glu34= | |
| NM_001145829.2:c.102G>A | NP_001139301.1:p.Glu34= | |
| NM_001145841.2:c.102G>A | NP_001139313.1:p.Glu34= |