Linked Data
ClinVar Variation Id:
1469020
ClinVar RCV Id:
RCV001961357
dbSNP Id:
rs1307621512
gnomAD v2:
11-88911708-G-A
gnomAD v4:
11-89178540-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178540G>A , CM000673.2:g.89178540G>A | GRCh38 |
| NC_000011.9:g.88911708G>A , CM000673.1:g.88911708G>A | GRCh37 |
| NC_000011.8:g.88551356G>A | NCBI36 |
| NG_008748.1:g.5669G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.587G>A MANE Select | ENSP00000263321.4:p.Arg196Lys | |
| ENST00000263321.5:c.587G>A | ENSP00000263321.4:p.Arg196Lys | |
| ENST00000526139.1:n.648G>A | ||
| NM_000372.4:c.587G>A | NP_000363.1:p.Arg196Lys | |
| XM_011542970.1:c.587G>A | XP_011541272.1:p.Arg196Lys | |
| XM_011542970.2:c.587G>A | XP_011541272.1:p.Arg196Lys | |
| XR_001748321.1:n.2718-65007C>T | ||
| XR_001748322.1:n.2733-65007C>T | ||
| NM_000372.5:c.587G>A MANE Select | NP_000363.1:p.Arg196Lys |