Linked Data
ClinVar Variation Id:
544155
dbSNP Id:
rs112223093
ExAC:
11:62384066 G / T
gnomAD v2:
11-62384066-G-T
gnomAD v3:
11-62616594-G-T
gnomAD v4:
11-62616594-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62616594G>T , CM000673.2:g.62616594G>T | GRCh38 |
| NC_000011.9:g.62384066G>T , CM000673.1:g.62384066G>T | GRCh37 |
| NC_000011.8:g.62140642G>T | NCBI36 |
| NG_009845.1:g.8854G>T | |
| NG_031863.1:g.10582C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265471.10:c.821C>A MANE Select | ENSP00000265471.5:p.Thr274Asn | |
| ENST00000265471.9:c.821C>A | ENSP00000265471.5:p.Thr274Asn | |
| ENST00000531383.5:c.821C>A | ENSP00000431359.1:p.Thr274Asn | |
| ENST00000532585.5:c.*943C>A | ENSP00000432604.1:n.*943C>A | |
| ENST00000534026.5:c.821C>A | ENSP00000432474.1:p.Thr274Asn | |
| NM_001288721.1:c.800C>A | NP_001275650.1:p.Thr267Asn | |
| NM_001288722.1:c.821C>A | NP_001275651.1:p.Thr274Asn | |
| NM_001288723.1:c.821C>A | NP_001275652.1:p.Thr274Asn | |
| NM_012200.3:c.821C>A | NP_036332.2:p.Thr274Asn | |
| NR_109991.1:n.1039C>A | ||
| XM_011544936.1:c.800C>A | XP_011543238.1:p.Thr267Asn | |
| NM_012200.4:c.821C>A MANE Select | NP_036332.2:p.Thr274Asn | |
| NM_001288721.2:c.800C>A | NP_001275650.1:p.Thr267Asn | |
| NM_001288722.2:c.821C>A | NP_001275651.1:p.Thr274Asn | |
| NM_001288723.2:c.821C>A | NP_001275652.1:p.Thr274Asn | |
| NR_109991.2:n.850C>A |