Linked Data
ClinVar Variation Id:
2616523
ClinVar RCV Id:
RCV003371701
dbSNP Id:
rs1434450707
gnomAD v2:
5-178421602-G-A
gnomAD v3:
5-178994601-G-A
gnomAD v4:
5-178994601-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178994601G>A , CM000667.2:g.178994601G>A | GRCh38 |
| NC_000005.9:g.178421602G>A , CM000667.1:g.178421602G>A | GRCh37 |
| NC_000005.8:g.178354208G>A | NCBI36 |
| NG_008105.1:g.5523C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.344C>T MANE Select | ENSP00000430767.1:p.Ala115Val | |
| ENST00000650031.1:c.344C>T | ENSP00000497110.1:p.Ala115Val | |
| ENST00000231188.9:c.344C>T | ENSP00000231188.5:p.Ala115Val | |
| ENST00000517717.1:c.344C>T | ENSP00000430767.1:p.Ala115Val | |
| NM_000843.3:c.344C>T | NP_000834.2:p.Ala115Val | |
| NM_000843.4:c.344C>T MANE Select | NP_000834.2:p.Ala115Val |