Linked Data
ClinVar Variation Id:
2432534
ClinVar RCV Id:
RCV003135622
dbSNP Id:
rs138853656
ExAC:
16:67469893 A / G
gnomAD v2:
16-67469893-A-G
gnomAD v3:
16-67435990-A-G
gnomAD v4:
16-67435990-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67435990A>G , CM000678.2:g.67435990A>G | GRCh38 |
| NC_000016.9:g.67469893A>G , CM000678.1:g.67469893A>G | GRCh37 |
| NC_000016.8:g.66027394A>G | NCBI36 |
| NG_016549.1:g.9858A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.512A>G MANE Select | ENSP00000316786.5:p.Asn171Ser | |
| ENST00000326152.5:c.512A>G | ENSP00000316786.5:p.Asn171Ser | |
| ENST00000566606.1:c.490A>G | ENSP00000473429.1:n.490A>G | |
| ENST00000567684.2:n.375A>G | ||
| NM_000196.3:c.512A>G | NP_000187.3:p.Asn171Ser | |
| NM_000196.4:c.512A>G MANE Select | NP_000187.3:p.Asn171Ser |