Linked Data
ClinVar Variation Id:
1523069
ClinVar RCV Id:
RCV002036487
dbSNP Id:
rs762717803
ExAC:
7:120428763 G / C
gnomAD v2:
7-120428763-G-C
gnomAD v3:
7-120788709-G-C
gnomAD v4:
7-120788709-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.120788709G>C , CM000669.2:g.120788709G>C | GRCh38 |
| NC_000007.13:g.120428763G>C , CM000669.1:g.120428763G>C | GRCh37 |
| NC_000007.12:g.120215999G>C | NCBI36 |
| NG_023203.1:g.74415C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222747.8:c.801C>G MANE Select | ENSP00000222747.3:p.Asn267Lys | |
| ENST00000222747.7:c.801C>G | ENSP00000222747.3:p.Asn267Lys | |
| ENST00000415871.5:c.801C>G | ENSP00000397699.1:p.Asn267Lys | |
| ENST00000450414.5:c.780C>G | ENSP00000397411.1:n.780C>G | |
| NM_012338.3:c.801C>G | NP_036470.1:p.Asn267Lys | |
| XM_005250239.1:c.801C>G | XP_005250296.1:p.Asn267Lys | |
| XM_011515993.1:c.801C>G | XP_011514295.1:p.Asn267Lys | |
| XM_011515994.1:c.801C>G | XP_011514296.1:p.Asn267Lys | |
| XM_005250239.3:c.801C>G | XP_005250296.1:p.Asn267Lys | |
| XM_017011913.1:c.726C>G | XP_016867402.1:p.Asn242Lys | |
| NM_012338.4:c.801C>G MANE Select | NP_036470.1:p.Asn267Lys |