Linked Data
ClinVar Variation Id:
309015
dbSNP Id:
rs375999143
ExAC:
12:49425229 C / T
gnomAD v2:
12-49425229-C-T
gnomAD v3:
12-49031446-C-T
gnomAD v4:
12-49031446-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49031446C>T , CM000674.2:g.49031446C>T | GRCh38 |
| NC_000012.11:g.49425229C>T , CM000674.1:g.49425229C>T | GRCh37 |
| NC_000012.10:g.47711496C>T | NCBI36 |
| NG_027827.1:g.28879G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.13259G>A | ENSP00000506726.1:p.Arg4420Gln | |
| ENST00000685166.1:c.13268G>A | ENSP00000509386.1:p.Arg4423Gln | |
| ENST00000685554.1:c.1753-134G>A | ENSP00000508640.1:n.1753-134G>A | |
| ENST00000692637.1:c.13256G>A | ENSP00000509666.1:p.Arg4419Gln | |
| ENST00000692841.1:c.4738G>A | ENSP00000508711.1:n.4738G>A | |
| ENST00000301067.12:c.13259G>A MANE Select | ENSP00000301067.7:p.Arg4420Gln | |
| ENST00000301067.11:c.13259G>A | ENSP00000301067.7:p.Arg4420Gln | |
| NM_003482.3:c.13259G>A | NP_003473.3:p.Arg4420Gln | |
| XM_005269162.3:c.13259G>A | XP_005269219.1:p.Arg4420Gln | |
| XM_006719614.2:c.13268G>A | XP_006719677.1:p.Arg4423Gln | |
| XM_006719616.2:c.13256G>A | XP_006719679.1:p.Arg4419Gln | |
| XM_011538770.1:c.13268G>A | XP_011537072.1:p.Arg4423Gln | |
| XM_011538771.1:c.13265G>A | XP_011537073.1:p.Arg4422Gln | |
| XM_011538772.1:c.13259G>A | XP_011537074.1:p.Arg4420Gln | |
| XM_011538773.1:c.13256G>A | XP_011537075.1:p.Arg4419Gln | |
| XM_011538774.1:c.13247G>A | XP_011537076.1:p.Arg4416Gln | |
| XM_011538775.1:c.13268G>A | XP_011537077.1:p.Arg4423Gln | |
| XM_011538776.1:c.13175G>A | XP_011537078.1:p.Arg4392Gln | |
| XR_944740.1:n.15588G>A | ||
| XM_005269162.4:c.13259G>A | XP_005269219.1:p.Arg4420Gln | |
| XM_006719614.4:c.13268G>A | XP_006719677.1:p.Arg4423Gln | |
| XM_006719616.3:c.13256G>A | XP_006719679.1:p.Arg4419Gln | |
| XM_011538770.2:c.13268G>A | XP_011537072.1:p.Arg4423Gln | |
| XM_011538771.2:c.13265G>A | XP_011537073.1:p.Arg4422Gln | |
| XM_011538772.2:c.13259G>A | XP_011537074.1:p.Arg4420Gln | |
| XM_011538773.2:c.13256G>A | XP_011537075.1:p.Arg4419Gln | |
| XM_011538774.2:c.13247G>A | XP_011537076.1:p.Arg4416Gln | |
| XM_011538776.2:c.13175G>A | XP_011537078.1:p.Arg4392Gln | |
| XR_001748874.1:n.14577G>A | ||
| NM_003482.4:c.13259G>A MANE Select | NP_003473.3:p.Arg4420Gln |