Linked Data
dbSNP Id:
rs560164970
ExAC:
18:43667367 T / C
gnomAD v2:
18-43667367-T-C
gnomAD v3:
18-46087401-T-C
gnomAD v4:
18-46087401-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46087401T>C , CM000680.2:g.46087401T>C | GRCh38 |
| NC_000018.9:g.43667367T>C , CM000680.1:g.43667367T>C | GRCh37 |
| NC_000018.8:g.41921365T>C | NCBI36 |
| NG_041769.1:g.21833A>G | |
| NG_041769.2:g.26833A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398752.11:c.891A>G MANE Select | ENSP00000381736.5:p.Gly297= | |
| ENST00000282050.6:c.891A>G | ENSP00000282050.2:p.Gly297= | |
| ENST00000398752.10:c.891A>G | ENSP00000381736.5:p.Gly297= | |
| ENST00000586523.1:n.1296A>G | ||
| ENST00000586592.5:c.*954A>G | ENSP00000466275.3:n.*954A>G | |
| ENST00000590156.5:c.*787A>G | ENSP00000466309.1:n.*787A>G | |
| ENST00000590665.5:c.825A>G | ENSP00000467037.1:p.Gly275= | |
| ENST00000592364.5:c.227-337A>G | ENSP00000468618.1:n.227-337A>G | |
| ENST00000593152.6:c.741A>G | ENSP00000465477.2:p.Gly247= | |
| NM_001001935.2:c.741A>G | NP_001001935.1:p.Gly247= | |
| NM_001001937.1:c.891A>G | NP_001001937.1:p.Gly297= | |
| NM_001257334.1:c.825A>G | NP_001244263.1:p.Gly275= | |
| NM_001257335.1:c.741A>G | NP_001244264.1:p.Gly247= | |
| NM_004046.5:c.891A>G | NP_004037.1:p.Gly297= | |
| XM_011526018.1:c.741A>G | XP_011524320.1:p.Gly247= | |
| XM_017025789.1:c.891A>G | XP_016881278.1:p.Gly297= | |
| NM_004046.6:c.891A>G MANE Select | NP_004037.1:p.Gly297= | |
| NM_001001935.3:c.741A>G | NP_001001935.1:p.Gly247= | |
| NM_001257334.2:c.825A>G | NP_001244263.1:p.Gly275= | |
| NM_001001937.2:c.891A>G | NP_001001937.1:p.Gly297= | |
| NM_001257335.2:c.741A>G | NP_001244264.1:p.Gly247= |