Linked Data
ClinVar Variation Id:
1563151
ClinVar RCV Id:
RCV002216321
dbSNP Id:
rs776309126
ExAC:
1:205027331 A / G
gnomAD v2:
1-205027331-A-G
gnomAD v3:
1-205058203-A-G
gnomAD v4:
1-205058203-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205058203A>G , CM000663.2:g.205058203A>G | GRCh38 |
| NC_000001.10:g.205027331A>G , CM000663.1:g.205027331A>G | GRCh37 |
| NC_000001.9:g.203293954A>G | NCBI36 |
| NG_033845.1:g.19992A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331830.7:c.238A>G MANE Select | ENSP00000330633.4:p.Met80Val | |
| ENST00000532366.2:c.*825A>G | ENSP00000491665.1:n.*825A>G | |
| ENST00000636809.2:n.526A>G | ||
| ENST00000638378.1:c.238A>G | ENSP00000492617.1:p.Met80Val | |
| ENST00000639302.1:c.238A>G | ENSP00000491671.1:p.Met80Val | |
| ENST00000639971.1:c.238A>G | ENSP00000491959.1:p.Met80Val | |
| ENST00000640326.1:c.238A>G | ENSP00000492495.1:p.Met80Val | |
| ENST00000640352.1:c.*825A>G | ENSP00000491080.1:n.*825A>G | |
| ENST00000640428.1:c.238A>G | ENSP00000491474.1:p.Met80Val | |
| ENST00000331830.4:c.238A>G | ENSP00000330633.4:p.Met80Val | |
| ENST00000532366.1:n.351A>G | ||
| NM_005076.3:c.238A>G | NP_005067.1:p.Met80Val | |
| XM_011509925.1:c.223A>G | XP_011508227.1:p.Met75Val | |
| NM_001346083.1:c.238A>G | NP_001333012.1:p.Met80Val | |
| NM_005076.4:c.238A>G | NP_005067.1:p.Met80Val | |
| NR_144350.1:n.595A>G | ||
| XM_017002198.1:c.238A>G | XP_016857687.1:p.Met80Val | |
| XM_017002199.2:c.223A>G | XP_016857688.1:p.Met75Val | |
| XM_024449386.1:c.277A>G | XP_024305154.1:p.Met93Val | |
| XM_024449387.1:c.-301A>G | XP_024305155.1:n.-301A>G | |
| XM_024449388.1:c.-301A>G | XP_024305156.1:n.-301A>G | |
| XM_024449389.1:c.277A>G | XP_024305157.1:p.Met93Val | |
| NM_005076.5:c.238A>G MANE Select | NP_005067.1:p.Met80Val | |
| NM_001346083.2:c.238A>G | NP_001333012.1:p.Met80Val | |
| NR_144350.2:n.507A>G |