Linked Data
ClinVar Variation Id:
2137221
ClinVar RCV Id:
RCV003062440
dbSNP Id:
rs748836772
ExAC:
11:88911208 C / A
gnomAD v2:
11-88911208-C-A
gnomAD v4:
11-89178040-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178040C>A , CM000673.2:g.89178040C>A | GRCh38 |
| NC_000011.9:g.88911208C>A , CM000673.1:g.88911208C>A | GRCh37 |
| NC_000011.8:g.88550856C>A | NCBI36 |
| NG_008748.1:g.5169C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.87C>A MANE Select | ENSP00000263321.4:p.Asn29Lys | |
| ENST00000263321.5:c.87C>A | ENSP00000263321.4:p.Asn29Lys | |
| ENST00000526139.1:n.148C>A | ||
| NM_000372.4:c.87C>A | NP_000363.1:p.Asn29Lys | |
| XM_011542970.1:c.87C>A | XP_011541272.1:p.Asn29Lys | |
| XM_011542970.2:c.87C>A | XP_011541272.1:p.Asn29Lys | |
| XR_001748321.1:n.2718-64507G>T | ||
| XR_001748322.1:n.2733-64507G>T | ||
| NM_000372.5:c.87C>A MANE Select | NP_000363.1:p.Asn29Lys |