Linked Data
ClinVar Variation Id:
410661
dbSNP Id:
rs143757415
ExAC:
6:133785941 C / A
gnomAD v2:
6-133785941-C-A
gnomAD v3:
6-133464803-C-A
gnomAD v4:
6-133464803-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.133464803C>A , CM000668.2:g.133464803C>A | GRCh38 |
| NC_000006.11:g.133785941C>A , CM000668.1:g.133785941C>A | GRCh37 |
| NC_000006.10:g.133827634C>A | NCBI36 |
| NG_011596.1:g.228447C>A | |
| NG_011596.2:g.228447C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525849.7:c.680C>A | ENSP00000433219.1:p.Thr227Asn | |
| ENST00000706301.1:c.587C>A | ENSP00000516341.1:p.Thr196Asn | |
| ENST00000355167.8:c.587C>A | ENSP00000347294.4:p.Thr196Asn | |
| ENST00000497350.3:n.980C>A | ||
| ENST00000683325.1:c.272C>A | ENSP00000508141.1:p.Thr91Asn | |
| ENST00000683664.1:n.715C>A | ||
| ENST00000684773.1:c.272C>A | ENSP00000506812.1:p.Thr91Asn | |
| ENST00000355286.12:c.749C>A MANE Select | ENSP00000347434.7:p.Thr250Asn | |
| ENST00000431403.3:c.680C>A | ENSP00000404558.3:p.Thr227Asn | |
| ENST00000525849.6:c.680C>A | ENSP00000433219.1:p.Thr227Asn | |
| ENST00000355167.7:c.749C>A | ENSP00000347294.3:p.Thr250Asn | |
| ENST00000355286.10:c.680C>A | ENSP00000347434.6:p.Thr227Asn | |
| ENST00000367895.9:c.749C>A | ENSP00000356870.5:p.Thr250Asn | |
| ENST00000421413.6:n.822C>A | ||
| ENST00000430974.6:c.587C>A | ENSP00000388670.2:p.Thr196Asn | |
| ENST00000431403.2:c.749C>A | ENSP00000404558.2:p.Thr250Asn | |
| ENST00000452339.6:c.587C>A | ENSP00000395916.2:p.Thr196Asn | |
| ENST00000525849.5:c.680C>A | ENSP00000433219.1:p.Thr227Asn | |
| ENST00000531861.5:n.749C>A | ||
| ENST00000531901.5:c.749C>A | ENSP00000432770.1:p.Thr250Asn | |
| ENST00000532518.1:n.77C>A | ||
| NM_001301012.1:c.587C>A | NP_001287941.1:p.Thr196Asn | |
| NM_001301013.1:c.749C>A | NP_001287942.1:p.Thr250Asn | |
| NM_004100.4:c.749C>A | NP_004091.3:p.Thr250Asn | |
| NM_172103.3:c.680C>A | NP_742101.2:p.Thr227Asn | |
| NM_172105.3:c.749C>A | NP_742103.1:p.Thr250Asn | |
| XM_005266851.3:c.749C>A | XP_005266908.1:p.Thr250Asn | |
| XM_005266852.3:c.749C>A | XP_005266909.1:p.Thr250Asn | |
| XM_005266853.3:c.680C>A | XP_005266910.1:p.Thr227Asn | |
| XM_011535540.1:c.680C>A | XP_011533842.1:p.Thr227Asn | |
| XM_011535541.1:c.665C>A | XP_011533843.1:p.Thr222Asn | |
| XM_011535542.1:c.587C>A | XP_011533844.1:p.Thr196Asn | |
| XM_005266851.5:c.749C>A | XP_005266908.1:p.Thr250Asn | |
| XM_005266853.5:c.680C>A | XP_005266910.1:p.Thr227Asn | |
| XM_017010368.2:c.749C>A | XP_016865857.1:p.Thr250Asn | |
| XM_017010369.2:c.749C>A | XP_016865858.1:p.Thr250Asn | |
| XM_017010370.2:c.680C>A | XP_016865859.1:p.Thr227Asn | |
| XM_017010371.2:c.665C>A | XP_016865860.1:p.Thr222Asn | |
| XM_017010372.2:c.587C>A | XP_016865861.1:p.Thr196Asn | |
| XM_017010373.2:c.587C>A | XP_016865862.1:p.Thr196Asn | |
| XM_017010374.2:c.587C>A | XP_016865863.1:p.Thr196Asn | |
| XM_017010375.1:c.587C>A | XP_016865864.1:p.Thr196Asn | |
| XR_001743219.2:n.911C>A | ||
| XR_001743220.2:n.911C>A | ||
| NM_004100.5:c.749C>A MANE Select | NP_004091.3:p.Thr250Asn | |
| NM_001370458.1:c.680C>A | NP_001357387.1:p.Thr227Asn | |
| NM_001370459.1:c.587C>A | NP_001357388.1:p.Thr196Asn | |
| NM_001301012.2:c.587C>A | NP_001287941.1:p.Thr196Asn | |
| NM_001301013.2:c.749C>A | NP_001287942.1:p.Thr250Asn | |
| NM_172103.4:c.680C>A | NP_742101.2:p.Thr227Asn | |
| NM_172105.4:c.749C>A | NP_742103.1:p.Thr250Asn |