Linked Data
ClinVar Variation Id:
506364
ClinVar RCV Id:
RCV000966186
dbSNP Id:
rs41272262
ExAC:
5:78301172 C / T
gnomAD v2:
5-78301172-C-T
gnomAD v3:
5-79005349-C-T
gnomAD v4:
5-79005349-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79005349C>T , CM000667.2:g.79005349C>T | GRCh38 |
| NC_000005.9:g.78301172C>T , CM000667.1:g.78301172C>T | GRCh37 |
| NC_000005.8:g.78336928C>T | NCBI36 |
| NG_012164.1:g.69278G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255189.8:c.2309G>A MANE Select | ENSP00000255189.3:p.Arg770Gln | |
| ENST00000255189.7:c.2309G>A | ENSP00000255189.3:p.Arg770Gln | |
| NM_013391.3:c.2309G>A MANE Select | NP_037523.2:p.Arg770Gln |