Linked Data
ClinVar Variation Id:
2307925
ClinVar RCV Id:
RCV004153524
dbSNP Id:
rs1835897031
gnomAD v3:
9-132678590-A-G
gnomAD v4:
9-132678590-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132678590A>G , CM000671.2:g.132678590A>G | GRCh38 |
| NC_000009.11:g.135553977A>G , CM000671.1:g.135553977A>G | GRCh37 |
| NC_000009.10:g.134543798A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372146.5:c.971A>G MANE Select | ENSP00000361219.4:p.Asn324Ser | |
| ENST00000372146.4:c.971A>G | ENSP00000361219.4:p.Asn324Ser | |
| ENST00000483873.6:c.421-288A>G | ENSP00000431378.1:n.421-288A>G | |
| NM_012204.2:c.971A>G | NP_036336.2:p.Asn324Ser | |
| XR_929875.1:n.1535A>G | ||
| NM_012204.3:c.971A>G | NP_036336.2:p.Asn324Ser | |
| NR_133925.1:n.1535A>G | ||
| XM_017015318.1:c.420+551A>G | XP_016870807.1:n.420+551A>G | |
| NM_012204.4:c.971A>G MANE Select | NP_036336.2:p.Asn324Ser |