Linked Data
ClinVar Variation Id:
285888
dbSNP Id:
rs41287112
ExAC:
5:149512494 C / T
gnomAD v2:
5-149512494-C-T
gnomAD v3:
5-150132931-C-T
gnomAD v4:
5-150132931-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150132931C>T , CM000667.2:g.150132931C>T | GRCh38 |
| NC_000005.9:g.149512494C>T , CM000667.1:g.149512494C>T | GRCh37 |
| NC_000005.8:g.149492687C>T | NCBI36 |
| NG_023367.1:g.27929G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261799.9:c.946G>A MANE Select | ENSP00000261799.4:p.Val316Met | |
| ENST00000261799.8:c.946G>A | ENSP00000261799.4:p.Val316Met | |
| ENST00000520579.5:c.*260G>A | ENSP00000430026.1:n.*260G>A | |
| NM_002609.3:c.946G>A | NP_002600.1:p.Val316Met | |
| XM_005268464.2:c.754G>A | XP_005268521.1:p.Val252Met | |
| XM_011537658.1:c.946G>A | XP_011535960.1:p.Val316Met | |
| XM_011537659.1:c.946G>A | XP_011535961.1:p.Val316Met | |
| XM_011537660.1:c.946G>A | XP_011535962.1:p.Val316Met | |
| NM_001355016.1:c.754G>A | NP_001341945.1:p.Val252Met | |
| NM_001355017.1:c.463G>A | NP_001341946.1:p.Val155Met | |
| NM_002609.4:c.946G>A MANE Select | NP_002600.1:p.Val316Met | |
| NM_001355016.2:c.754G>A | NP_001341945.1:p.Val252Met | |
| NM_001355017.2:c.463G>A | NP_001341946.1:p.Val155Met |