Linked Data
ClinVar Variation Id:
2732508
ClinVar RCV Id:
RCV003516238
dbSNP Id:
rs1803010959
gnomAD v3:
8-24954253-G-A
gnomAD v4:
8-24954253-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24954253G>A , CM000670.2:g.24954253G>A | GRCh38 |
| NC_000008.10:g.24811767G>A , CM000670.1:g.24811767G>A | GRCh37 |
| NC_000008.9:g.24867684G>A | NCBI36 |
| NG_008492.1:g.7365C>T , LRG_259:g.7365C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.1097C>T MANE Select | ENSP00000482169.2:p.Ala366Val | |
| ENST00000610854.1:c.1097C>T | ENSP00000482169.1:p.Ala366Val | |
| ENST00000619417.1:c.818C>T | ENSP00000483690.1:p.Ala273Val | |
| NM_006158.4:c.1097C>T , LRG_259t1:c.1097C>T | NP_006149.2:p.Ala366Val | |
| NM_006158.5:c.1097C>T MANE Select | NP_006149.2:p.Ala366Val |