Linked Data
ClinVar Variation Id:
1041159
ClinVar RCV Id:
RCV001344922
dbSNP Id:
rs764062837
ExAC:
7:120428764 T / C
gnomAD v2:
7-120428764-T-C
gnomAD v3:
7-120788710-T-C
gnomAD v4:
7-120788710-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.120788710T>C , CM000669.2:g.120788710T>C | GRCh38 |
| NC_000007.13:g.120428764T>C , CM000669.1:g.120428764T>C | GRCh37 |
| NC_000007.12:g.120216000T>C | NCBI36 |
| NG_023203.1:g.74414A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222747.8:c.800A>G MANE Select | ENSP00000222747.3:p.Asn267Ser | |
| ENST00000222747.7:c.800A>G | ENSP00000222747.3:p.Asn267Ser | |
| ENST00000415871.5:c.800A>G | ENSP00000397699.1:p.Asn267Ser | |
| ENST00000450414.5:c.779A>G | ENSP00000397411.1:n.779A>G | |
| NM_012338.3:c.800A>G | NP_036470.1:p.Asn267Ser | |
| XM_005250239.1:c.800A>G | XP_005250296.1:p.Asn267Ser | |
| XM_011515993.1:c.800A>G | XP_011514295.1:p.Asn267Ser | |
| XM_011515994.1:c.800A>G | XP_011514296.1:p.Asn267Ser | |
| XM_005250239.3:c.800A>G | XP_005250296.1:p.Asn267Ser | |
| XM_017011913.1:c.725A>G | XP_016867402.1:p.Asn242Ser | |
| NM_012338.4:c.800A>G MANE Select | NP_036470.1:p.Asn267Ser |