Linked Data
ClinVar Variation Id:
370431
ClinVar RCV Id:
RCV000409949
dbSNP Id:
rs1057516482
gnomAD v2:
3-165504089-C-A
gnomAD v3:
3-165786301-C-A
gnomAD v4:
3-165786301-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165786301C>A , CM000665.2:g.165786301C>A | GRCh38 |
| NC_000003.11:g.165504089C>A , CM000665.1:g.165504089C>A | GRCh37 |
| NC_000003.10:g.166986783C>A | NCBI36 |
| NG_009031.1:g.56165G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264381.8:c.1528G>T MANE Select | ENSP00000264381.3:p.Glu510Ter | |
| ENST00000264381.7:c.1528G>T | ENSP00000264381.3:p.Glu510Ter | |
| ENST00000479451.5:c.118G>T | ENSP00000418325.1:p.Glu40Ter | |
| ENST00000482958.1:c.*34G>T | ENSP00000419804.1:n.*34G>T | |
| ENST00000488954.1:c.118G>T | ENSP00000418504.1:p.Glu40Ter | |
| ENST00000497011.5:c.1528G>T | ENSP00000419505.1:p.Glu510Ter | |
| NM_000055.2:c.1528G>T | NP_000046.1:p.Glu510Ter | |
| XM_005247685.1:c.1651G>T | XP_005247742.1:p.Glu551Ter | |
| NM_000055.3:c.1528G>T | NP_000046.1:p.Glu510Ter | |
| NR_137635.1:n.170G>T | ||
| NR_137636.1:n.1695G>T | ||
| NM_000055.4:c.1528G>T MANE Select | NP_000046.1:p.Glu510Ter | |
| NR_137635.2:n.121G>T | ||
| NR_137636.2:n.1646G>T |