Linked Data
ClinVar Variation Id:
353084
dbSNP Id:
rs117187367
ExAC:
5:178540998 C / A
gnomAD v2:
5-178540998-C-A
gnomAD v3:
5-179113997-C-A
gnomAD v4:
5-179113997-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179113997C>A , CM000667.2:g.179113997C>A | GRCh38 |
| NC_000005.9:g.178540998C>A , CM000667.1:g.178540998C>A | GRCh37 |
| NC_000005.8:g.178473604C>A | NCBI36 |
| NG_023212.2:g.236332G>T | |
| NG_023212.3:g.236332G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251582.12:c.3506G>T MANE Select | ENSP00000251582.7:p.Gly1169Val | |
| ENST00000251582.11:c.3506G>T | ENSP00000251582.7:p.Gly1169Val | |
| NM_014244.4:c.3506G>T | NP_055059.2:p.Gly1169Val | |
| NM_014244.5:c.3506G>T MANE Select | NP_055059.2:p.Gly1169Val |