Linked Data
ClinVar Variation Id:
371275
ClinVar RCV Id:
RCV000411256
dbSNP Id:
rs1057517144
gnomAD v3:
3-165786253-G-A
gnomAD v4:
3-165786253-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165786253G>A , CM000665.2:g.165786253G>A | GRCh38 |
| NC_000003.11:g.165504041G>A , CM000665.1:g.165504041G>A | GRCh37 |
| NC_000003.10:g.166986735G>A | NCBI36 |
| NG_009031.1:g.56213C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1576C>T MANE Select | ENSP00000264381.3:p.Gln526Ter | |
| ENST00000264381.7:c.1576C>T | ENSP00000264381.3:p.Gln526Ter | |
| ENST00000479451.5:c.166C>T | ENSP00000418325.1:p.Gln56Ter | |
| ENST00000482958.1:c.*82C>T | ENSP00000419804.1:n.*82C>T | |
| ENST00000488954.1:c.166C>T | ENSP00000418504.1:p.Gln56Ter | |
| ENST00000497011.5:c.1576C>T | ENSP00000419505.1:p.Gln526Ter | |
| NM_000055.2:c.1576C>T | NP_000046.1:p.Gln526Ter | |
| XM_005247685.1:c.1699C>T | XP_005247742.1:p.Gln567Ter | |
| NM_000055.3:c.1576C>T | NP_000046.1:p.Gln526Ter | |
| NR_137635.1:n.218C>T | ||
| NR_137636.1:n.1743C>T | ||
| NM_000055.4:c.1576C>T MANE Select | NP_000046.1:p.Gln526Ter | |
| NR_137635.2:n.169C>T | ||
| NR_137636.2:n.1694C>T |