Linked Data
ClinVar Variation Id:
217689
dbSNP Id:
rs17089782
ExAC:
13:73409497 G / A
gnomAD v2:
13-73409497-G-A
gnomAD v3:
13-72835359-G-A
gnomAD v4:
13-72835359-G-A
PubMed:
PMID:26167768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.72835359G>A , CM000675.2:g.72835359G>A | GRCh38 |
| NC_000013.10:g.73409497G>A , CM000675.1:g.73409497G>A | GRCh37 |
| NC_000013.9:g.72307498G>A | NCBI36 |
| NG_053118.1:g.58336G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326291.11:c.1214G>A MANE Select | ENSP00000317144.6:p.Arg405Gln | |
| ENST00000326291.10:c.1214G>A | ENSP00000317144.6:p.Arg405Gln | |
| ENST00000615625.1:c.-145G>A | ENSP00000483286.1:n.-145G>A | |
| ENST00000617689.4:c.1214G>A | ENSP00000478697.1:p.Arg405Gln | |
| NM_006346.2:c.1214G>A | NP_006337.2:p.Arg405Gln | |
| XM_006719755.2:c.*70G>A | XP_006719818.1:n.*70G>A | |
| XM_011534881.1:c.1214G>A | XP_011533183.1:p.Arg405Gln | |
| XM_011534882.1:c.1214G>A | XP_011533184.1:p.Arg405Gln | |
| XM_011534883.1:c.1214G>A | XP_011533185.1:p.Arg405Gln | |
| XM_011534884.1:c.1214G>A | XP_011533186.1:p.Arg405Gln | |
| XM_011534885.1:c.845G>A | XP_011533187.1:p.Arg282Gln | |
| XM_011534886.1:c.1214G>A | XP_011533188.1:p.Arg405Gln | |
| XR_941461.1:n.1364G>A | ||
| NM_001349655.1:c.1214G>A | NP_001336584.1:p.Arg405Gln | |
| NM_006346.3:c.1214G>A | NP_006337.2:p.Arg405Gln | |
| NR_146205.1:n.1611G>A | ||
| NR_146206.1:n.1611G>A | ||
| XM_011534882.3:c.1214G>A | XP_011533184.1:p.Arg405Gln | |
| XM_011534884.3:c.1214G>A | XP_011533186.1:p.Arg405Gln | |
| XM_011534885.3:c.845G>A | XP_011533187.1:p.Arg282Gln | |
| XM_011534886.3:c.1214G>A | XP_011533188.1:p.Arg405Gln | |
| XM_017020350.2:c.845G>A | XP_016875839.1:p.Arg282Gln | |
| XM_017020351.2:c.1214G>A | XP_016875840.1:p.Arg405Gln | |
| XM_017020352.2:c.11G>A | XP_016875841.1:p.Arg4Gln | |
| XM_017020354.2:c.11G>A | XP_016875843.1:p.Arg4Gln | |
| XM_024449314.1:c.1214G>A | XP_024305082.1:p.Arg405Gln | |
| XR_001749456.2:n.1478G>A | ||
| XR_001749457.2:n.1478G>A | ||
| XR_001749458.2:n.1478G>A | ||
| XR_001749459.2:n.1478G>A | ||
| XR_001749460.2:n.1478G>A | ||
| XR_002957449.1:n.1478G>A | ||
| XR_941461.3:n.1478G>A | ||
| NM_006346.4:c.1214G>A MANE Select | NP_006337.2:p.Arg405Gln | |
| NM_001349655.2:c.1214G>A | NP_001336584.1:p.Arg405Gln | |
| NR_146205.2:n.1501G>A | ||
| NR_146206.2:n.1501G>A |