Linked Data
dbSNP Id:
rs776803166
ExAC:
11:18290879 A / G
gnomAD v2:
11-18290879-A-G
gnomAD v3:
11-18269332-A-G
gnomAD v4:
11-18269332-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18269332A>G , CM000673.2:g.18269332A>G | GRCh38 |
| NC_000011.9:g.18290879A>G , CM000673.1:g.18290879A>G | GRCh37 |
| NC_000011.8:g.18247455A>G | NCBI36 |
| NG_021330.1:g.8072A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689650.1:c.229A>G | ENSP00000509190.1:p.Thr77Ala | |
| ENST00000356524.9:c.229A>G MANE Select | ENSP00000348918.4:p.Thr77Ala | |
| ENST00000649195.1:c.229A>G | ENSP00000497498.1:p.Thr77Ala | |
| ENST00000356524.8:c.229A>G | ENSP00000348918.4:p.Thr77Ala | |
| ENST00000405158.2:c.229A>G | ENSP00000384906.2:p.Thr77Ala | |
| ENST00000532858.5:c.229A>G | ENSP00000436866.1:p.Thr77Ala | |
| NM_000331.4:c.229A>G | NP_000322.2:p.Ser77Gly | |
| NM_001178006.1:c.229A>G | NP_001171477.1:p.Ser77Gly | |
| NM_199161.3:c.229A>G | NP_954630.1:p.Ser77Gly | |
| NM_000331.5:c.229A>G | NP_000322.2:p.Ser77Gly | |
| NM_001178006.2:c.229A>G | NP_001171477.1:p.Ser77Gly | |
| NM_199161.4:c.229A>G | NP_954630.1:p.Ser77Gly | |
| NM_199161.5:c.229A>G MANE Select | NP_954630.2:p.Thr77Ala | |
| NM_000331.6:c.229A>G | NP_000322.3:p.Thr77Ala | |
| NM_001178006.3:c.229A>G | NP_001171477.2:p.Thr77Ala |