Linked Data
ClinVar Variation Id:
67225
dbSNP Id:
rs199472918
ExAC:
7:150648826 A / G
gnomAD v2:
7-150648826-A-G
gnomAD v3:
7-150951738-A-G
gnomAD v4:
7-150951738-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150951738A>G , CM000669.2:g.150951738A>G | GRCh38 |
| NC_000007.13:g.150648826A>G , CM000669.1:g.150648826A>G | GRCh37 |
| NC_000007.12:g.150279759A>G | NCBI36 |
| NG_008916.1:g.31189T>C , LRG_288:g.31189T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.953T>C | ||
| ENST00000684116.1:n.548T>C | ||
| ENST00000684241.1:n.2488T>C | ||
| ENST00000262186.10:c.1655T>C MANE Select | ENSP00000262186.5:p.Leu552Ser | |
| ENST00000330883.9:c.635T>C | ENSP00000328531.4:p.Leu212Ser | |
| ENST00000262186.9:c.1655T>C | ENSP00000262186.5:p.Leu552Ser | |
| ENST00000330883.8:c.635T>C | ENSP00000328531.4:p.Leu212Ser | |
| ENST00000430723.4:c.1307T>C | ENSP00000387657.4:p.Leu436Ser | |
| ENST00000461280.1:n.942T>C | ||
| ENST00000473610.5:n.960T>C | ||
| ENST00000532957.5:n.1878T>C | ||
| NM_000238.3:c.1655T>C , LRG_288t1:c.1655T>C | NP_000229.1:p.Leu552Ser | |
| NM_001204798.1:c.635T>C | NP_001191727.1:p.Leu212Ser | |
| NM_172056.2:c.1655T>C , LRG_288t2:c.1655T>C | NP_742053.1:p.Leu552Ser | |
| NM_172057.2:c.635T>C , LRG_288t3:c.635T>C | NP_742054.1:p.Leu212Ser | |
| XM_011516185.1:c.1355T>C | XP_011514487.1:p.Leu452Ser | |
| XM_011516186.1:c.1655T>C | XP_011514488.1:p.Leu552Ser | |
| XM_011516185.2:c.1355T>C | XP_011514487.1:p.Leu452Ser | |
| XM_011516186.3:c.1655T>C | XP_011514488.1:p.Leu552Ser | |
| XM_017012195.1:c.1505T>C | XP_016867684.1:p.Leu502Ser | |
| XM_017012196.1:c.1478T>C | XP_016867685.1:p.Leu493Ser | |
| NM_000238.4:c.1655T>C MANE Select | NP_000229.1:p.Leu552Ser | |
| NM_001204798.2:c.635T>C | NP_001191727.1:p.Leu212Ser | |
| NM_172057.3:c.635T>C | NP_742054.1:p.Leu212Ser |