Linked Data
ClinVar Variation Id:
430817
ClinVar RCV Id:
RCV000578144
dbSNP Id:
rs1555188469
gnomAD v4:
12-49032905-G-A
PubMed:
PMID:29255178
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49032905G>A , CM000674.2:g.49032905G>A | GRCh38 |
| NC_000012.11:g.49426688G>A , CM000674.1:g.49426688G>A | GRCh37 |
| NC_000012.10:g.47712955G>A | NCBI36 |
| NG_027827.1:g.27420C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.11800C>T | ENSP00000506726.1:p.Gln3934Ter | |
| ENST00000685166.1:c.11809C>T | ENSP00000509386.1:p.Gln3937Ter | |
| ENST00000685554.1:c.1360C>T | ENSP00000508640.1:p.Gln454Ter | |
| ENST00000687201.1:c.3379C>T | ENSP00000510037.1:p.Gln1127Ter | |
| ENST00000692637.1:c.11797C>T | ENSP00000509666.1:p.Gln3933Ter | |
| ENST00000692841.1:c.3279C>T | ENSP00000508711.1:n.3279C>T | |
| ENST00000301067.12:c.11800C>T MANE Select | ENSP00000301067.7:p.Gln3934Ter | |
| ENST00000301067.11:c.11800C>T | ENSP00000301067.7:p.Gln3934Ter | |
| NM_003482.3:c.11800C>T | NP_003473.3:p.Gln3934Ter | |
| XM_005269162.3:c.11800C>T | XP_005269219.1:p.Gln3934Ter | |
| XM_006719614.2:c.11809C>T | XP_006719677.1:p.Gln3937Ter | |
| XM_006719616.2:c.11797C>T | XP_006719679.1:p.Gln3933Ter | |
| XM_011538770.1:c.11809C>T | XP_011537072.1:p.Gln3937Ter | |
| XM_011538771.1:c.11806C>T | XP_011537073.1:p.Gln3936Ter | |
| XM_011538772.1:c.11800C>T | XP_011537074.1:p.Gln3934Ter | |
| XM_011538773.1:c.11797C>T | XP_011537075.1:p.Gln3933Ter | |
| XM_011538774.1:c.11788C>T | XP_011537076.1:p.Gln3930Ter | |
| XM_011538775.1:c.11809C>T | XP_011537077.1:p.Gln3937Ter | |
| XM_011538776.1:c.11716C>T | XP_011537078.1:p.Gln3906Ter | |
| XR_944740.1:n.14129C>T | ||
| XM_005269162.4:c.11800C>T | XP_005269219.1:p.Gln3934Ter | |
| XM_006719614.4:c.11809C>T | XP_006719677.1:p.Gln3937Ter | |
| XM_006719616.3:c.11797C>T | XP_006719679.1:p.Gln3933Ter | |
| XM_011538770.2:c.11809C>T | XP_011537072.1:p.Gln3937Ter | |
| XM_011538771.2:c.11806C>T | XP_011537073.1:p.Gln3936Ter | |
| XM_011538772.2:c.11800C>T | XP_011537074.1:p.Gln3934Ter | |
| XM_011538773.2:c.11797C>T | XP_011537075.1:p.Gln3933Ter | |
| XM_011538774.2:c.11788C>T | XP_011537076.1:p.Gln3930Ter | |
| XM_011538776.2:c.11716C>T | XP_011537078.1:p.Gln3906Ter | |
| XR_001748874.1:n.13118C>T | ||
| NM_003482.4:c.11800C>T MANE Select | NP_003473.3:p.Gln3934Ter |