Linked Data
ClinVar Variation Id:
1148525
dbSNP Id:
rs143504660
ExAC:
17:6599218 G / A
gnomAD v2:
17-6599218-G-A
gnomAD v3:
17-6695899-G-A
gnomAD v4:
17-6695899-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6695899G>A , CM000679.2:g.6695899G>A | GRCh38 |
| NC_000017.10:g.6599218G>A , CM000679.1:g.6599218G>A | GRCh37 |
| NC_000017.9:g.6539942G>A | NCBI36 |
| NG_034220.1:g.22523C>T , LRG_1020:g.22523C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.882C>T MANE Select | ENSP00000406220.2:p.Asn294= | |
| ENST00000293800.10:c.831C>T | ENSP00000293800.6:p.Asn277= | |
| ENST00000381074.8:c.753C>T | ENSP00000370464.4:p.Asn251= | |
| ENST00000433363.6:c.882C>T | ENSP00000406220.2:p.Asn294= | |
| ENST00000572094.1:c.*632C>T | ENSP00000461495.1:n.*632C>T | |
| ENST00000573648.5:c.882C>T | ENSP00000459372.1:p.Asn294= | |
| ENST00000574824.5:n.2015C>T | ||
| NM_001143838.2:c.882C>T | NP_001137310.1:p.Asn294= | |
| NM_001284509.1:c.831C>T | NP_001271438.1:p.Asn277= | |
| NM_001284510.1:c.753C>T | NP_001271439.1:p.Asn251= | |
| NM_177550.4:c.882C>T , LRG_1020t1:c.882C>T | NP_808218.1:p.Asn294= | |
| XM_006721504.2:c.771C>T | XP_006721567.1:p.Asn257= | |
| XM_011523795.1:c.882C>T | XP_011522097.1:p.Asn294= | |
| XM_011523795.3:c.882C>T | XP_011522097.1:p.Asn294= | |
| NM_001143838.3:c.882C>T | NP_001137310.1:p.Asn294= | |
| NM_001284509.2:c.831C>T | NP_001271438.1:p.Asn277= | |
| NM_001284510.2:c.753C>T | NP_001271439.1:p.Asn251= | |
| NM_177550.5:c.882C>T MANE Select | NP_808218.1:p.Asn294= |