Linked Data
ClinVar Variation Id:
704039
ClinVar RCV Id:
RCV000873923
dbSNP Id:
rs200042760
ExAC:
5:148206954 A / G
gnomAD v2:
5-148206954-A-G
gnomAD v3:
5-148827391-A-G
gnomAD v4:
5-148827391-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827391A>G , CM000667.2:g.148827391A>G | GRCh38 |
| NC_000005.9:g.148206954A>G , CM000667.1:g.148206954A>G | GRCh37 |
| NC_000005.8:g.148187147A>G | NCBI36 |
| NG_016421.1:g.5799A>G | |
| NG_016421.2:g.5799A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.560A>G MANE Select | ENSP00000305372.4:p.Asn187Ser | |
| ENST00000305988.5:c.560A>G | ENSP00000305372.4:p.Asn187Ser | |
| NM_000024.5:c.560A>G | NP_000015.1:p.Asn187Ser | |
| NM_000024.6:c.560A>G MANE Select | NP_000015.2:p.Asn187Ser |