Linked Data
ClinVar Variation Id:
405346
ClinVar RCV Id:
RCV001841348
dbSNP Id:
rs779027664
ExAC:
7:150654557 T / C
gnomAD v2:
7-150654557-T-C
gnomAD v4:
7-150957469-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150957469T>C , CM000669.2:g.150957469T>C | GRCh38 |
| NC_000007.13:g.150654557T>C , CM000669.1:g.150654557T>C | GRCh37 |
| NC_000007.12:g.150285490T>C | NCBI36 |
| NG_008916.1:g.25458A>G , LRG_288:g.25458A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.1783A>G | ||
| ENST00000262186.10:c.950A>G MANE Select | ENSP00000262186.5:p.Asn317Ser | |
| ENST00000262186.9:c.950A>G | ENSP00000262186.5:p.Asn317Ser | |
| ENST00000430723.4:c.602A>G | ENSP00000387657.4:p.Asn201Ser | |
| ENST00000532957.5:n.1173A>G | ||
| NM_000238.3:c.950A>G , LRG_288t1:c.950A>G | NP_000229.1:p.Asn317Ser | |
| NM_172056.2:c.950A>G , LRG_288t2:c.950A>G | NP_742053.1:p.Asn317Ser | |
| XM_011516185.1:c.650A>G | XP_011514487.1:p.Asn217Ser | |
| XM_011516186.1:c.950A>G | XP_011514488.1:p.Asn317Ser | |
| XM_011516185.2:c.650A>G | XP_011514487.1:p.Asn217Ser | |
| XM_011516186.3:c.950A>G | XP_011514488.1:p.Asn317Ser | |
| XM_017012195.1:c.800A>G | XP_016867684.1:p.Asn267Ser | |
| XM_017012196.1:c.773A>G | XP_016867685.1:p.Asn258Ser | |
| NM_000238.4:c.950A>G MANE Select | NP_000229.1:p.Asn317Ser |