Linked Data
ClinVar Variation Id:
3775
ClinVar RCV Id:
RCV000003974
RCV000085903
RCV000680155
RCV000755077
RCV000762870
RCV001266635
RCV003230346
RCV003415645
RCV003460413
dbSNP Id:
rs121908011
ExAC:
11:88961101 G / A
gnomAD v2:
11-88961101-G-A
gnomAD v3:
11-89227933-G-A
gnomAD v4:
11-89227933-G-A
COSMIC:
COSM4522117
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89227933G>A , CM000673.2:g.89227933G>A | GRCh38 |
| NC_000011.9:g.88961101G>A , CM000673.1:g.88961101G>A | GRCh37 |
| NC_000011.8:g.88600749G>A | NCBI36 |
| NG_008748.1:g.55062G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263321.6:c.1147G>A MANE Select | ENSP00000263321.4:p.Asp383Asn | |
| ENST00000263321.5:c.1147G>A | ENSP00000263321.4:p.Asp383Asn | |
| NM_000372.4:c.1147G>A | NP_000363.1:p.Asp383Asn | |
| XM_011542970.1:c.1147G>A | XP_011541272.1:p.Asp383Asn | |
| XM_011542970.2:c.1147G>A | XP_011541272.1:p.Asp383Asn | |
| XR_001748321.1:n.2717+43527C>T | ||
| XR_001748322.1:n.2732+43527C>T | ||
| NM_000372.5:c.1147G>A MANE Select | NP_000363.1:p.Asp383Asn |