Linked Data
dbSNP Id:
rs763643624
ExAC:
16:74670416 T / G
gnomAD v2:
16-74670416-T-G
gnomAD v4:
16-74636518-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74636518T>G , CM000678.2:g.74636518T>G | GRCh38 |
| NC_000016.9:g.74670416T>G , CM000678.1:g.74670416T>G | GRCh37 |
| NC_000016.8:g.73227917T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361070.9:c.1254A>C MANE Select | ENSP00000354361.4:p.Gln418His | |
| ENST00000361070.8:c.1254A>C | ENSP00000354361.4:p.Gln418His | |
| ENST00000571750.5:c.1254A>C | ENSP00000460049.1:p.Gln418His | |
| NM_018124.3:c.1254A>C | NP_060594.3:p.Gln418His | |
| XM_005256021.3:c.1254A>C | XP_005256078.1:p.Gln418His | |
| XM_005256022.3:c.1254A>C | XP_005256079.1:p.Gln418His | |
| XM_006721228.2:c.1254A>C | XP_006721291.1:p.Gln418His | |
| XM_011523191.1:c.1254A>C | XP_011521493.1:p.Gln418His | |
| XM_005256021.4:c.1254A>C | XP_005256078.1:p.Gln418His | |
| XM_005256022.4:c.1254A>C | XP_005256079.1:p.Gln418His | |
| XM_006721228.3:c.1254A>C | XP_006721291.1:p.Gln418His | |
| XM_011523191.3:c.1254A>C | XP_011521493.1:p.Gln418His | |
| XM_017023391.1:c.1254A>C | XP_016878880.1:p.Gln418His | |
| XM_017023392.1:c.1254A>C | XP_016878881.1:p.Gln418His | |
| NM_018124.4:c.1254A>C MANE Select | NP_060594.3:p.Gln418His | |
| NM_001370534.1:c.1254A>C | NP_001357463.1:p.Gln418His | |
| NM_001370535.1:c.1254A>C | NP_001357464.1:p.Gln418His | |
| NM_001370536.1:c.1254A>C | NP_001357465.1:p.Gln418His | |
| NM_001370537.1:c.420A>C | NP_001357466.1:p.Gln140His | |
| NM_001370539.1:c.420A>C | NP_001357468.1:p.Gln140His | |
| NM_001370540.1:c.420A>C | NP_001357469.1:p.Gln140His | |
| NM_001370542.1:c.420A>C | NP_001357471.1:p.Gln140His | |
| NM_001370543.1:c.420A>C | NP_001357472.1:p.Gln140His |