Linked Data
dbSNP Id:
rs1249439740
gnomAD v2:
12-49424776-C-T
gnomAD v3:
12-49030993-C-T
gnomAD v4:
12-49030993-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49030993C>T , CM000674.2:g.49030993C>T | GRCh38 |
| NC_000012.11:g.49424776C>T , CM000674.1:g.49424776C>T | GRCh37 |
| NC_000012.10:g.47711043C>T | NCBI36 |
| NG_027827.1:g.29332G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000552391.2:n.271G>A | ||
| ENST00000683543.2:c.13571G>A | ENSP00000506726.1:p.Arg4524Gln | |
| ENST00000685166.1:c.13580G>A | ENSP00000509386.1:p.Arg4527Gln | |
| ENST00000685982.1:c.138+182G>A | ENSP00000508613.1:n.138+182G>A | |
| ENST00000691986.1:c.138+182G>A | ENSP00000509196.1:n.138+182G>A | |
| ENST00000692637.1:c.13568G>A | ENSP00000509666.1:p.Arg4523Gln | |
| ENST00000692973.1:c.172G>A | ENSP00000508893.1:n.172G>A | |
| ENST00000301067.12:c.13571G>A MANE Select | ENSP00000301067.7:p.Arg4524Gln | |
| ENST00000301067.11:c.13571G>A | ENSP00000301067.7:p.Arg4524Gln | |
| ENST00000552391.1:n.271G>A | ||
| NM_003482.3:c.13571G>A | NP_003473.3:p.Arg4524Gln | |
| XM_005269162.3:c.13571G>A | XP_005269219.1:p.Arg4524Gln | |
| XM_006719614.2:c.13580G>A | XP_006719677.1:p.Arg4527Gln | |
| XM_006719616.2:c.13568G>A | XP_006719679.1:p.Arg4523Gln | |
| XM_011538770.1:c.13580G>A | XP_011537072.1:p.Arg4527Gln | |
| XM_011538771.1:c.13577G>A | XP_011537073.1:p.Arg4526Gln | |
| XM_011538772.1:c.13571G>A | XP_011537074.1:p.Arg4524Gln | |
| XM_011538773.1:c.13568G>A | XP_011537075.1:p.Arg4523Gln | |
| XM_011538774.1:c.13559G>A | XP_011537076.1:p.Arg4520Gln | |
| XM_011538775.1:c.13580G>A | XP_011537077.1:p.Arg4527Gln | |
| XM_011538776.1:c.13487G>A | XP_011537078.1:p.Arg4496Gln | |
| XR_944740.1:n.15900G>A | ||
| XM_005269162.4:c.13571G>A | XP_005269219.1:p.Arg4524Gln | |
| XM_006719614.4:c.13580G>A | XP_006719677.1:p.Arg4527Gln | |
| XM_006719616.3:c.13568G>A | XP_006719679.1:p.Arg4523Gln | |
| XM_011538770.2:c.13580G>A | XP_011537072.1:p.Arg4527Gln | |
| XM_011538771.2:c.13577G>A | XP_011537073.1:p.Arg4526Gln | |
| XM_011538772.2:c.13571G>A | XP_011537074.1:p.Arg4524Gln | |
| XM_011538773.2:c.13568G>A | XP_011537075.1:p.Arg4523Gln | |
| XM_011538774.2:c.13559G>A | XP_011537076.1:p.Arg4520Gln | |
| XM_011538776.2:c.13487G>A | XP_011537078.1:p.Arg4496Gln | |
| XR_001748874.1:n.14889G>A | ||
| NM_003482.4:c.13571G>A MANE Select | NP_003473.3:p.Arg4524Gln |