Linked Data
ClinVar Variation Id:
2493052
ClinVar RCV Id:
RCV003218213
dbSNP Id:
rs377591597
ExAC:
16:28856681 C / T
gnomAD v2:
16-28856681-C-T
gnomAD v3:
16-28845360-C-T
gnomAD v4:
16-28845360-C-T
COSMIC:
COSM969535
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28845360C>T , CM000678.2:g.28845360C>T | GRCh38 |
| NC_000016.9:g.28856681C>T , CM000678.1:g.28856681C>T | GRCh37 |
| NC_000016.8:g.28764182C>T | NCBI36 |
| NG_008964.1:g.6049G>A | |
| NG_029706.2:g.3761C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313511.8:c.368G>A MANE Select | ENSP00000322439.3:p.Arg123His | |
| ENST00000313511.7:c.368G>A | ENSP00000322439.3:p.Arg123His | |
| ENST00000565012.1:c.248-305G>A | ENSP00000455007.1:n.248-305G>A | |
| NM_003321.4:c.368G>A | NP_003312.3:p.Arg123His | |
| XM_011545928.1:c.368G>A | XP_011544230.1:p.Arg123His | |
| NM_001365360.1:c.368G>A | NP_001352289.1:p.Arg123His | |
| NM_003321.5:c.368G>A MANE Select | NP_003312.3:p.Arg123His | |
| NM_001365360.2:c.368G>A | NP_001352289.1:p.Arg123His |