Linked Data
ClinVar Variation Id:
2090687
dbSNP Id:
rs376114174
ExAC:
5:178557013 C / T
gnomAD v2:
5-178557013-C-T
gnomAD v4:
5-179130012-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179130012C>T , CM000667.2:g.179130012C>T | GRCh38 |
| NC_000005.9:g.178557013C>T , CM000667.1:g.178557013C>T | GRCh37 |
| NC_000005.8:g.178489619C>T | NCBI36 |
| NG_023212.2:g.220317G>A | |
| NG_023212.3:g.220317G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698889.1:c.2377G>A | ENSP00000514008.1:p.Val793Met | |
| ENST00000251582.12:c.2377G>A MANE Select | ENSP00000251582.7:p.Val793Met | |
| ENST00000518335.3:c.2377G>A | ENSP00000489888.2:p.Val793Met | |
| ENST00000251582.11:c.2377G>A | ENSP00000251582.7:p.Val793Met | |
| NM_014244.4:c.2377G>A | NP_055059.2:p.Val793Met | |
| NM_014244.5:c.2377G>A MANE Select | NP_055059.2:p.Val793Met |