Linked Data
ClinVar Variation Id:
67381
dbSNP Id:
rs199473534
gnomAD v3:
7-150950300-T-C
gnomAD v4:
7-150950300-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950300T>C , CM000669.2:g.150950300T>C | GRCh38 |
| NC_000007.13:g.150647388T>C , CM000669.1:g.150647388T>C | GRCh37 |
| NC_000007.12:g.150278321T>C | NCBI36 |
| NG_008916.1:g.32627A>G , LRG_288:g.32627A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1564A>G | ||
| ENST00000684241.1:n.3099A>G | ||
| ENST00000262186.10:c.2266A>G MANE Select | ENSP00000262186.5:p.Met756Val | |
| ENST00000330883.9:c.1246A>G | ENSP00000328531.4:p.Met416Val | |
| ENST00000262186.9:c.2266A>G | ENSP00000262186.5:p.Met756Val | |
| ENST00000330883.8:c.1246A>G | ENSP00000328531.4:p.Met416Val | |
| ENST00000430723.4:c.1918A>G | ENSP00000387657.4:p.Met640Val | |
| ENST00000461280.1:n.1553A>G | ||
| ENST00000473610.5:n.1898A>G | ||
| ENST00000532957.5:n.2489A>G | ||
| NM_000238.3:c.2266A>G , LRG_288t1:c.2266A>G | NP_000229.1:p.Met756Val | |
| NM_001204798.1:c.1246A>G | NP_001191727.1:p.Met416Val | |
| NM_172056.2:c.2266A>G , LRG_288t2:c.2266A>G | NP_742053.1:p.Met756Val | |
| NM_172057.2:c.1246A>G , LRG_288t3:c.1246A>G | NP_742054.1:p.Met416Val | |
| XM_011516185.1:c.1966A>G | XP_011514487.1:p.Met656Val | |
| XM_011516186.1:c.2266A>G | XP_011514488.1:p.Met756Val | |
| XM_011516185.2:c.1966A>G | XP_011514487.1:p.Met656Val | |
| XM_011516186.3:c.2266A>G | XP_011514488.1:p.Met756Val | |
| XM_017012195.1:c.2116A>G | XP_016867684.1:p.Met706Val | |
| XM_017012196.1:c.2089A>G | XP_016867685.1:p.Met697Val | |
| NM_000238.4:c.2266A>G MANE Select | NP_000229.1:p.Met756Val | |
| NM_001204798.2:c.1246A>G | NP_001191727.1:p.Met416Val | |
| NM_172057.3:c.1246A>G | NP_742054.1:p.Met416Val |