Linked Data
ClinVar Variation Id:
3071248
ClinVar RCV Id:
RCV004014750
dbSNP Id:
rs149311926
gnomAD v2:
1-55525315-C-A
gnomAD v3:
1-55059642-C-A
gnomAD v4:
1-55059642-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55059642C>A , CM000663.2:g.55059642C>A | GRCh38 |
| NC_000001.10:g.55525315C>A , CM000663.1:g.55525315C>A | GRCh37 |
| NC_000001.9:g.55297903C>A | NCBI36 |
| NG_009061.1:g.25096C>A , LRG_275:g.25096C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.1660C>A | ENSP00000501161.2:p.Gln554Lys | |
| ENST00000710286.1:c.2017C>A | ENSP00000518176.1:p.Gln673Lys | |
| ENST00000673903.1:c.1285C>A | ENSP00000501257.1:p.Gln429Lys | |
| ENST00000673913.1:c.400C>A | ENSP00000501161.1:p.Gln134Lys | |
| ENST00000302118.5:c.1660C>A MANE Select | ENSP00000303208.5:p.Gln554Lys | |
| ENST00000490692.1:n.2227+995C>A | ||
| NM_174936.3:c.1660C>A , LRG_275t1:c.1660C>A | NP_777596.2:p.Gln554Lys | |
| NR_110451.1:n.1267C>A | ||
| XM_011541193.1:c.781C>A | XP_011539495.1:p.Gln261Lys | |
| NM_174936.4:c.1660C>A MANE Select | NP_777596.2:p.Gln554Lys | |
| NR_110451.2:n.1267C>A |