Linked Data
dbSNP Id:
rs761382902
ExAC:
12:49424688 T / C
gnomAD v2:
12-49424688-T-C
gnomAD v4:
12-49030905-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49030905T>C , CM000674.2:g.49030905T>C | GRCh38 |
| NC_000012.11:g.49424688T>C , CM000674.1:g.49424688T>C | GRCh37 |
| NC_000012.10:g.47710955T>C | NCBI36 |
| NG_027827.1:g.29420A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000552391.2:n.359A>G | ||
| ENST00000683543.2:c.13659A>G | ENSP00000506726.1:p.Lys4553= | |
| ENST00000685166.1:c.13668A>G | ENSP00000509386.1:p.Lys4556= | |
| ENST00000685982.1:c.139-137A>G | ENSP00000508613.1:n.139-137A>G | |
| ENST00000691986.1:c.138+270A>G | ENSP00000509196.1:n.138+270A>G | |
| ENST00000692637.1:c.13656A>G | ENSP00000509666.1:p.Lys4552= | |
| ENST00000692973.1:c.260A>G | ENSP00000508893.1:n.260A>G | |
| ENST00000301067.12:c.13659A>G MANE Select | ENSP00000301067.7:p.Lys4553= | |
| ENST00000301067.11:c.13659A>G | ENSP00000301067.7:p.Lys4553= | |
| ENST00000552391.1:n.359A>G | ||
| NM_003482.3:c.13659A>G | NP_003473.3:p.Lys4553= | |
| XM_005269162.3:c.13659A>G | XP_005269219.1:p.Lys4553= | |
| XM_006719614.2:c.13668A>G | XP_006719677.1:p.Lys4556= | |
| XM_006719616.2:c.13656A>G | XP_006719679.1:p.Lys4552= | |
| XM_011538770.1:c.13668A>G | XP_011537072.1:p.Lys4556= | |
| XM_011538771.1:c.13665A>G | XP_011537073.1:p.Lys4555= | |
| XM_011538772.1:c.13659A>G | XP_011537074.1:p.Lys4553= | |
| XM_011538773.1:c.13656A>G | XP_011537075.1:p.Lys4552= | |
| XM_011538774.1:c.13647A>G | XP_011537076.1:p.Lys4549= | |
| XM_011538775.1:c.13668A>G | XP_011537077.1:p.Lys4556= | |
| XM_011538776.1:c.13575A>G | XP_011537078.1:p.Lys4525= | |
| XR_944740.1:n.15988A>G | ||
| XM_005269162.4:c.13659A>G | XP_005269219.1:p.Lys4553= | |
| XM_006719614.4:c.13668A>G | XP_006719677.1:p.Lys4556= | |
| XM_006719616.3:c.13656A>G | XP_006719679.1:p.Lys4552= | |
| XM_011538770.2:c.13668A>G | XP_011537072.1:p.Lys4556= | |
| XM_011538771.2:c.13665A>G | XP_011537073.1:p.Lys4555= | |
| XM_011538772.2:c.13659A>G | XP_011537074.1:p.Lys4553= | |
| XM_011538773.2:c.13656A>G | XP_011537075.1:p.Lys4552= | |
| XM_011538774.2:c.13647A>G | XP_011537076.1:p.Lys4549= | |
| XM_011538776.2:c.13575A>G | XP_011537078.1:p.Lys4525= | |
| XR_001748874.1:n.14977A>G | ||
| NM_003482.4:c.13659A>G MANE Select | NP_003473.3:p.Lys4553= |