Linked Data
ClinVar Variation Id:
67374
dbSNP Id:
rs199472988
ExAC:
7:150647450 G / A
gnomAD v2:
7-150647450-G-A
gnomAD v4:
7-150950362-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950362G>A , CM000669.2:g.150950362G>A | GRCh38 |
| NC_000007.13:g.150647450G>A , CM000669.1:g.150647450G>A | GRCh37 |
| NC_000007.12:g.150278383G>A | NCBI36 |
| NG_008916.1:g.32565C>T , LRG_288:g.32565C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1502C>T | ||
| ENST00000684241.1:n.3037C>T | ||
| ENST00000262186.10:c.2204C>T MANE Select | ENSP00000262186.5:p.Ser735Leu | |
| ENST00000330883.9:c.1184C>T | ENSP00000328531.4:p.Ser395Leu | |
| ENST00000262186.9:c.2204C>T | ENSP00000262186.5:p.Ser735Leu | |
| ENST00000330883.8:c.1184C>T | ENSP00000328531.4:p.Ser395Leu | |
| ENST00000430723.4:c.1856C>T | ENSP00000387657.4:p.Ser619Leu | |
| ENST00000461280.1:n.1491C>T | ||
| ENST00000473610.5:n.1836C>T | ||
| ENST00000532957.5:n.2427C>T | ||
| NM_000238.3:c.2204C>T , LRG_288t1:c.2204C>T | NP_000229.1:p.Ser735Leu | |
| NM_001204798.1:c.1184C>T | NP_001191727.1:p.Ser395Leu | |
| NM_172056.2:c.2204C>T , LRG_288t2:c.2204C>T | NP_742053.1:p.Ser735Leu | |
| NM_172057.2:c.1184C>T , LRG_288t3:c.1184C>T | NP_742054.1:p.Ser395Leu | |
| XM_011516185.1:c.1904C>T | XP_011514487.1:p.Ser635Leu | |
| XM_011516186.1:c.2204C>T | XP_011514488.1:p.Ser735Leu | |
| XM_011516185.2:c.1904C>T | XP_011514487.1:p.Ser635Leu | |
| XM_011516186.3:c.2204C>T | XP_011514488.1:p.Ser735Leu | |
| XM_017012195.1:c.2054C>T | XP_016867684.1:p.Ser685Leu | |
| XM_017012196.1:c.2027C>T | XP_016867685.1:p.Ser676Leu | |
| NM_000238.4:c.2204C>T MANE Select | NP_000229.1:p.Ser735Leu | |
| NM_001204798.2:c.1184C>T | NP_001191727.1:p.Ser395Leu | |
| NM_172057.3:c.1184C>T | NP_742054.1:p.Ser395Leu |