Linked Data
ClinVar Variation Id:
2180419
ClinVar RCV Id:
RCV002619244
dbSNP Id:
rs773156731
ExAC:
12:121174937 A / G
gnomAD v2:
12-121174937-A-G
gnomAD v4:
12-120737134-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120737134A>G , CM000674.2:g.120737134A>G | GRCh38 |
| NC_000012.11:g.121174937A>G , CM000674.1:g.121174937A>G | GRCh37 |
| NC_000012.10:g.119659320A>G | NCBI36 |
| NG_007991.1:g.16367A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.359A>G MANE Select | ENSP00000242592.4:p.Asn120Ser | |
| ENST00000242592.8:c.359A>G | ENSP00000242592.4:p.Asn120Ser | |
| ENST00000411593.2:c.359A>G | ENSP00000401045.2:p.Asn120Ser | |
| ENST00000539690.1:n.471A>G | ||
| NM_000017.3:c.359A>G | NP_000008.1:p.Asn120Ser | |
| NM_001302554.1:c.359A>G | NP_001289483.1:p.Asn120Ser | |
| NM_000017.4:c.359A>G MANE Select | NP_000008.1:p.Asn120Ser | |
| NM_001302554.2:c.359A>G | NP_001289483.1:p.Asn120Ser |