Linked Data
ClinVar Variation Id:
94147
dbSNP Id:
rs398123705
ExAC:
12:49427338 T / G
gnomAD v2:
12-49427338-T-G
gnomAD v3:
12-49033555-T-G
gnomAD v4:
12-49033555-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49033555T>G , CM000674.2:g.49033555T>G | GRCh38 |
| NC_000012.11:g.49427338T>G , CM000674.1:g.49427338T>G | GRCh37 |
| NC_000012.10:g.47713605T>G | NCBI36 |
| NG_027827.1:g.26770A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.11150A>C | ENSP00000506726.1:p.Gln3717Pro | |
| ENST00000685166.1:c.11159A>C | ENSP00000509386.1:p.Gln3720Pro | |
| ENST00000685554.1:c.710A>C | ENSP00000508640.1:p.Gln237Pro | |
| ENST00000687201.1:c.2729A>C | ENSP00000510037.1:p.Gln910Pro | |
| ENST00000692637.1:c.11147A>C | ENSP00000509666.1:p.Gln3716Pro | |
| ENST00000692841.1:c.2629A>C | ENSP00000508711.1:n.2629A>C | |
| ENST00000301067.12:c.11150A>C MANE Select | ENSP00000301067.7:p.Gln3717Pro | |
| ENST00000301067.11:c.11150A>C | ENSP00000301067.7:p.Gln3717Pro | |
| NM_003482.3:c.11150A>C | NP_003473.3:p.Gln3717Pro | |
| XM_005269162.3:c.11150A>C | XP_005269219.1:p.Gln3717Pro | |
| XM_006719614.2:c.11159A>C | XP_006719677.1:p.Gln3720Pro | |
| XM_006719616.2:c.11147A>C | XP_006719679.1:p.Gln3716Pro | |
| XM_011538770.1:c.11159A>C | XP_011537072.1:p.Gln3720Pro | |
| XM_011538771.1:c.11156A>C | XP_011537073.1:p.Gln3719Pro | |
| XM_011538772.1:c.11150A>C | XP_011537074.1:p.Gln3717Pro | |
| XM_011538773.1:c.11147A>C | XP_011537075.1:p.Gln3716Pro | |
| XM_011538774.1:c.11138A>C | XP_011537076.1:p.Gln3713Pro | |
| XM_011538775.1:c.11159A>C | XP_011537077.1:p.Gln3720Pro | |
| XM_011538776.1:c.11066A>C | XP_011537078.1:p.Gln3689Pro | |
| XR_944740.1:n.13479A>C | ||
| XM_005269162.4:c.11150A>C | XP_005269219.1:p.Gln3717Pro | |
| XM_006719614.4:c.11159A>C | XP_006719677.1:p.Gln3720Pro | |
| XM_006719616.3:c.11147A>C | XP_006719679.1:p.Gln3716Pro | |
| XM_011538770.2:c.11159A>C | XP_011537072.1:p.Gln3720Pro | |
| XM_011538771.2:c.11156A>C | XP_011537073.1:p.Gln3719Pro | |
| XM_011538772.2:c.11150A>C | XP_011537074.1:p.Gln3717Pro | |
| XM_011538773.2:c.11147A>C | XP_011537075.1:p.Gln3716Pro | |
| XM_011538774.2:c.11138A>C | XP_011537076.1:p.Gln3713Pro | |
| XM_011538776.2:c.11066A>C | XP_011537078.1:p.Gln3689Pro | |
| XR_001748874.1:n.12468A>C | ||
| NM_003482.4:c.11150A>C MANE Select | NP_003473.3:p.Gln3717Pro |