Linked Data
ClinVar Variation Id:
94139
ClinVar RCV Id:
RCV000177938
dbSNP Id:
rs398123700
ExAC:
12:49427850 C / T
gnomAD v2:
12-49427850-C-T
gnomAD v3:
12-49034067-C-T
gnomAD v4:
12-49034067-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49034067C>T , CM000674.2:g.49034067C>T | GRCh38 |
| NC_000012.11:g.49427850C>T , CM000674.1:g.49427850C>T | GRCh37 |
| NC_000012.10:g.47714117C>T | NCBI36 |
| NG_027827.1:g.26258G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.10740G>A | ENSP00000506726.1:p.Gln3580= | |
| ENST00000685166.1:c.10749G>A | ENSP00000509386.1:p.Gln3583= | |
| ENST00000685554.1:c.300G>A | ENSP00000508640.1:p.Gln100= | |
| ENST00000687201.1:c.2319G>A | ENSP00000510037.1:p.Gln773= | |
| ENST00000692637.1:c.10737G>A | ENSP00000509666.1:p.Gln3579= | |
| ENST00000692841.1:c.2219G>A | ENSP00000508711.1:n.2219G>A | |
| ENST00000301067.12:c.10740G>A MANE Select | ENSP00000301067.7:p.Gln3580= | |
| ENST00000301067.11:c.10740G>A | ENSP00000301067.7:p.Gln3580= | |
| NM_003482.3:c.10740G>A | NP_003473.3:p.Gln3580= | |
| XM_005269162.3:c.10740G>A | XP_005269219.1:p.Gln3580= | |
| XM_006719614.2:c.10749G>A | XP_006719677.1:p.Gln3583= | |
| XM_006719616.2:c.10737G>A | XP_006719679.1:p.Gln3579= | |
| XM_011538770.1:c.10749G>A | XP_011537072.1:p.Gln3583= | |
| XM_011538771.1:c.10746G>A | XP_011537073.1:p.Gln3582= | |
| XM_011538772.1:c.10740G>A | XP_011537074.1:p.Gln3580= | |
| XM_011538773.1:c.10737G>A | XP_011537075.1:p.Gln3579= | |
| XM_011538774.1:c.10728G>A | XP_011537076.1:p.Gln3576= | |
| XM_011538775.1:c.10749G>A | XP_011537077.1:p.Gln3583= | |
| XM_011538776.1:c.10656G>A | XP_011537078.1:p.Gln3552= | |
| XR_944740.1:n.13069G>A | ||
| XM_005269162.4:c.10740G>A | XP_005269219.1:p.Gln3580= | |
| XM_006719614.4:c.10749G>A | XP_006719677.1:p.Gln3583= | |
| XM_006719616.3:c.10737G>A | XP_006719679.1:p.Gln3579= | |
| XM_011538770.2:c.10749G>A | XP_011537072.1:p.Gln3583= | |
| XM_011538771.2:c.10746G>A | XP_011537073.1:p.Gln3582= | |
| XM_011538772.2:c.10740G>A | XP_011537074.1:p.Gln3580= | |
| XM_011538773.2:c.10737G>A | XP_011537075.1:p.Gln3579= | |
| XM_011538774.2:c.10728G>A | XP_011537076.1:p.Gln3576= | |
| XM_011538776.2:c.10656G>A | XP_011537078.1:p.Gln3552= | |
| XR_001748874.1:n.12058G>A | ||
| NM_003482.4:c.10740G>A MANE Select | NP_003473.3:p.Gln3580= |