Linked Data
ClinVar Variation Id:
167411
dbSNP Id:
rs78432029
ExAC:
5:41850216 C / A
gnomAD v2:
5-41850216-C-A
gnomAD v3:
5-41850114-C-A
gnomAD v4:
5-41850114-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.41850114C>A , CM000667.2:g.41850114C>A | GRCh38 |
| NC_000005.9:g.41850216C>A , CM000667.1:g.41850216C>A | GRCh37 |
| NC_000005.8:g.41885973C>A | NCBI36 |
| NG_011823.1:g.25576G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196371.10:c.480G>T MANE Select | ENSP00000196371.5:p.Gly160= | |
| ENST00000196371.9:c.480G>T | ENSP00000196371.5:p.Gly160= | |
| NM_000436.3:c.480G>T | NP_000427.1:p.Gly160= | |
| XR_427658.2:n.656G>T | ||
| NM_001364299.1:c.501G>T | NP_001351228.1:p.Gly167= | |
| NM_001364300.1:c.501G>T | NP_001351229.1:p.Gly167= | |
| NM_001364301.1:c.480G>T | NP_001351230.1:p.Gly160= | |
| NM_001364302.1:c.480G>T | NP_001351231.1:p.Gly160= | |
| NR_157114.1:n.547G>T | ||
| XR_001742081.2:n.657G>T | ||
| NM_000436.4:c.480G>T MANE Select | NP_000427.1:p.Gly160= | |
| NM_001364299.2:c.501G>T | NP_001351228.1:p.Gly167= | |
| NM_001364300.2:c.501G>T | NP_001351229.1:p.Gly167= | |
| NM_001364301.2:c.480G>T | NP_001351230.1:p.Gly160= | |
| NM_001364302.2:c.480G>T | NP_001351231.1:p.Gly160= | |
| NR_157114.2:n.547G>T |