Linked Data
ClinVar Variation Id:
435291
ClinVar RCV Id:
RCV000500431
dbSNP Id:
rs1553690406
gnomAD v4:
3-81670852-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81670852C>A , CM000665.2:g.81670852C>A | GRCh38 |
| NC_000003.11:g.81720003C>A , CM000665.1:g.81720003C>A | GRCh37 |
| NC_000003.10:g.81802693C>A | NCBI36 |
| NG_011810.1:g.95949G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.415G>T MANE Select | ENSP00000410833.2:p.Gly139Ter | |
| ENST00000429644.6:c.415G>T | ENSP00000410833.2:p.Gly139Ter | |
| ENST00000477426.1:n.131G>T | ||
| ENST00000489715.1:c.292G>T | ENSP00000419638.1:p.Gly98Ter | |
| NM_000158.3:c.415G>T | NP_000149.3:p.Gly139Ter | |
| NM_000158.4:c.415G>T MANE Select | NP_000149.4:p.Gly139Ter |