Linked Data
ClinVar Variation Id:
1774734
ClinVar RCV Id:
RCV002403058
dbSNP Id:
rs778975231
gnomAD v2:
11-2790096-A-G
gnomAD v4:
11-2768866-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2768866A>G , CM000673.2:g.2768866A>G | GRCh38 |
| NC_000011.9:g.2790096A>G , CM000673.1:g.2790096A>G | GRCh37 |
| NC_000011.8:g.2746672A>G | NCBI36 |
| NG_008935.1:g.328876A>G , LRG_287:g.328876A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1180A>G | ENSP00000434560.2:p.Thr394Ala | |
| ENST00000646564.2:c.997A>G | ENSP00000495806.2:p.Thr333Ala | |
| ENST00000155840.12:c.1537A>G MANE Select | ENSP00000155840.2:p.Thr513Ala | |
| ENST00000335475.6:c.1156A>G | ENSP00000334497.5:p.Thr386Ala | |
| ENST00000646564.1:c.643A>G | ENSP00000495806.1:p.Thr215Ala | |
| ENST00000155840.9:c.1537A>G | ENSP00000155840.2:p.Thr513Ala | |
| ENST00000335475.5:c.1156A>G | ENSP00000334497.5:p.Thr386Ala | |
| NM_000218.2:c.1537A>G , LRG_287t1:c.1537A>G | NP_000209.2:p.Thr513Ala | |
| NM_181798.1:c.1156A>G , LRG_287t2:c.1156A>G | NP_861463.1:p.Thr386Ala | |
| NM_000218.3:c.1537A>G MANE Select | NP_000209.2:p.Thr513Ala |