Linked Data
ClinVar Variation Id:
927557
ClinVar RCV Id:
RCV001841127
dbSNP Id:
rs1584863947
gnomAD v4:
7-150957410-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150957410T>C , CM000669.2:g.150957410T>C | GRCh38 |
| NC_000007.13:g.150654498T>C , CM000669.1:g.150654498T>C | GRCh37 |
| NC_000007.12:g.150285431T>C | NCBI36 |
| NG_008916.1:g.25517A>G , LRG_288:g.25517A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1842A>G | ||
| ENST00000262186.10:c.1009A>G MANE Select | ENSP00000262186.5:p.Thr337Ala | |
| ENST00000262186.9:c.1009A>G | ENSP00000262186.5:p.Thr337Ala | |
| ENST00000430723.4:c.661A>G | ENSP00000387657.4:p.Thr221Ala | |
| ENST00000532957.5:n.1232A>G | ||
| NM_000238.3:c.1009A>G , LRG_288t1:c.1009A>G | NP_000229.1:p.Thr337Ala | |
| NM_172056.2:c.1009A>G , LRG_288t2:c.1009A>G | NP_742053.1:p.Thr337Ala | |
| XM_011516185.1:c.709A>G | XP_011514487.1:p.Thr237Ala | |
| XM_011516186.1:c.1009A>G | XP_011514488.1:p.Thr337Ala | |
| XM_011516185.2:c.709A>G | XP_011514487.1:p.Thr237Ala | |
| XM_011516186.3:c.1009A>G | XP_011514488.1:p.Thr337Ala | |
| XM_017012195.1:c.859A>G | XP_016867684.1:p.Thr287Ala | |
| XM_017012196.1:c.832A>G | XP_016867685.1:p.Thr278Ala | |
| NM_000238.4:c.1009A>G MANE Select | NP_000229.1:p.Thr337Ala |