Linked Data
ClinVar Variation Id:
2916437
ClinVar RCV Id:
RCV003753818
dbSNP Id:
rs373447577
ExAC:
12:49433204 G / A
gnomAD v2:
12-49433204-G-A
gnomAD v3:
12-49039421-G-A
gnomAD v4:
12-49039421-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49039421G>A , CM000674.2:g.49039421G>A | GRCh38 |
| NC_000012.11:g.49433204G>A , CM000674.1:g.49433204G>A | GRCh37 |
| NC_000012.10:g.47719471G>A | NCBI36 |
| NG_027827.1:g.20904C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.8229+14C>T | ENSP00000506726.1:n.8229+14C>T | |
| ENST00000685166.1:c.8238+14C>T | ENSP00000509386.1:n.8238+14C>T | |
| ENST00000689060.1:c.2248+14C>T | ||
| ENST00000689143.1:c.1902+14C>T | ENSP00000509839.1:n.1902+14C>T | |
| ENST00000689944.1:c.2338+14C>T | ||
| ENST00000692637.1:c.8226+14C>T | ENSP00000509666.1:n.8226+14C>T | |
| ENST00000301067.12:c.8229+14C>T MANE Select | ENSP00000301067.7:n.8229+14C>T | |
| ENST00000301067.11:c.8229+14C>T | ENSP00000301067.7:n.8229+14C>T | |
| NM_003482.3:c.8229+14C>T | NP_003473.3:n.8229+14C>T | |
| XM_005269162.3:c.8229+14C>T | XP_005269219.1:n.8229+14C>T | |
| XM_006719614.2:c.8238+14C>T | XP_006719677.1:n.8238+14C>T | |
| XM_006719616.2:c.8226+14C>T | XP_006719679.1:n.8226+14C>T | |
| XM_011538770.1:c.8238+14C>T | XP_011537072.1:n.8238+14C>T | |
| XM_011538771.1:c.8235+14C>T | XP_011537073.1:n.8235+14C>T | |
| XM_011538772.1:c.8229+14C>T | XP_011537074.1:n.8229+14C>T | |
| XM_011538773.1:c.8226+14C>T | XP_011537075.1:n.8226+14C>T | |
| XM_011538774.1:c.8217+14C>T | XP_011537076.1:n.8217+14C>T | |
| XM_011538775.1:c.8238+14C>T | XP_011537077.1:n.8238+14C>T | |
| XM_011538776.1:c.8145+14C>T | XP_011537078.1:n.8145+14C>T | |
| XR_944740.1:n.10558+14C>T | ||
| XM_005269162.4:c.8229+14C>T | XP_005269219.1:n.8229+14C>T | |
| XM_006719614.4:c.8238+14C>T | XP_006719677.1:n.8238+14C>T | |
| XM_006719616.3:c.8226+14C>T | XP_006719679.1:n.8226+14C>T | |
| XM_011538770.2:c.8238+14C>T | XP_011537072.1:n.8238+14C>T | |
| XM_011538771.2:c.8235+14C>T | XP_011537073.1:n.8235+14C>T | |
| XM_011538772.2:c.8229+14C>T | XP_011537074.1:n.8229+14C>T | |
| XM_011538773.2:c.8226+14C>T | XP_011537075.1:n.8226+14C>T | |
| XM_011538774.2:c.8217+14C>T | XP_011537076.1:n.8217+14C>T | |
| XM_011538776.2:c.8145+14C>T | XP_011537078.1:n.8145+14C>T | |
| XR_001748874.1:n.9547+14C>T | ||
| NM_003482.4:c.8229+14C>T MANE Select | NP_003473.3:n.8229+14C>T |