Linked Data
ClinVar Variation Id:
2107813
ClinVar RCV Id:
RCV003033827
dbSNP Id:
rs1254138989
gnomAD v2:
11-88911132-C-T
gnomAD v3:
11-89177964-C-T
gnomAD v4:
11-89177964-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89177964C>T , CM000673.2:g.89177964C>T | GRCh38 |
| NC_000011.9:g.88911132C>T , CM000673.1:g.88911132C>T | GRCh37 |
| NC_000011.8:g.88550780C>T | NCBI36 |
| NG_008748.1:g.5093C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.11C>T MANE Select | ENSP00000263321.4:p.Ala4Val | |
| ENST00000263321.5:c.11C>T | ENSP00000263321.4:p.Ala4Val | |
| ENST00000526139.1:n.72C>T | ||
| NM_000372.4:c.11C>T | NP_000363.1:p.Ala4Val | |
| XM_011542970.1:c.11C>T | XP_011541272.1:p.Ala4Val | |
| XM_011542970.2:c.11C>T | XP_011541272.1:p.Ala4Val | |
| XR_001748321.1:n.2718-64431G>A | ||
| XR_001748322.1:n.2733-64431G>A | ||
| NM_000372.5:c.11C>T MANE Select | NP_000363.1:p.Ala4Val |