Linked Data
ClinVar Variation Id:
448933
ClinVar RCV Id:
RCV000521093
dbSNP Id:
rs768411950
ExAC:
10:112724729 A / G
gnomAD v2:
10-112724729-A-G
gnomAD v4:
10-110964971-A-G
ERepo:
CA5689601/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110964971A>G , CM000672.2:g.110964971A>G | GRCh38 |
| NC_000010.10:g.112724729A>G , CM000672.1:g.112724729A>G | GRCh37 |
| NC_000010.9:g.112714719A>G | NCBI36 |
| NG_028922.1:g.50429A>G , LRG_753:g.50429A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265277.10:c.613A>G | ENSP00000265277.5:p.Thr205Ala | |
| ENST00000451838.2:c.-242-35444A>G | ENSP00000408275.2:n.-242-35444A>G | |
| ENST00000480155.2:n.849A>G | ||
| ENST00000685059.1:c.613A>G | ENSP00000510210.1:p.Thr205Ala | |
| ENST00000685613.1:c.613A>G | ENSP00000510564.1:p.Thr205Ala | |
| ENST00000687592.1:n.912A>G | ||
| ENST00000688928.1:c.613A>G | ENSP00000509273.1:p.Thr205Ala | |
| ENST00000689118.1:c.613A>G | ENSP00000510554.1:p.Thr205Ala | |
| ENST00000689300.1:c.613A>G | ENSP00000510639.1:p.Thr205Ala | |
| ENST00000689997.1:c.-380-20657A>G | ENSP00000510700.1:n.-380-20657A>G | |
| ENST00000691151.1:n.905A>G | ||
| ENST00000691369.1:c.613A>G | ENSP00000509754.1:p.Thr205Ala | |
| ENST00000691441.1:c.613A>G | ENSP00000509686.1:p.Thr205Ala | |
| ENST00000691903.1:c.613A>G | ENSP00000510314.1:p.Thr205Ala | |
| ENST00000692776.1:c.613A>G | ENSP00000508524.1:p.Thr205Ala | |
| ENST00000369452.9:c.613A>G MANE Select | ENSP00000358464.5:p.Thr205Ala | |
| ENST00000265277.9:c.613A>G | ENSP00000265277.5:p.Thr205Ala | |
| ENST00000369452.8:c.613A>G | ENSP00000358464.4:p.Thr205Ala | |
| ENST00000451838.1:c.121A>G | ENSP00000408275.1:p.Thr41Ala | |
| ENST00000489390.1:n.56-35444A>G | ||
| NM_001269039.1:c.613A>G | NP_001255968.1:p.Thr205Ala | |
| NM_007373.3:c.613A>G , LRG_753t1:c.613A>G | NP_031399.2:p.Thr205Ala | |
| XM_011540216.1:c.-380-20657A>G | XP_011538518.1:n.-380-20657A>G | |
| NM_001269039.2:c.613A>G | NP_001255968.1:p.Thr205Ala | |
| NM_001324336.1:c.613A>G | NP_001311265.1:p.Thr205Ala | |
| NM_001324337.1:c.613A>G | NP_001311266.1:p.Thr205Ala | |
| NR_136749.1:n.116-20657A>G | ||
| NM_007373.4:c.613A>G MANE Select | NP_031399.2:p.Thr205Ala | |
| NM_001269039.3:c.613A>G | NP_001255968.1:p.Thr205Ala | |
| NM_001324336.2:c.613A>G | NP_001311265.1:p.Thr205Ala | |
| NM_001324337.2:c.613A>G | NP_001311266.1:p.Thr205Ala | |
| NR_136749.2:n.55-20657A>G |