Linked Data
ClinVar Variation Id:
577995
ClinVar RCV Id:
RCV000700873
dbSNP Id:
rs794728483
gnomAD v3:
7-150951651-G-A
gnomAD v4:
7-150951651-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150951651G>A , CM000669.2:g.150951651G>A | GRCh38 |
| NC_000007.13:g.150648739G>A , CM000669.1:g.150648739G>A | GRCh37 |
| NC_000007.12:g.150279672G>A | NCBI36 |
| NG_008916.1:g.31276C>T , LRG_288:g.31276C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461280.2:n.1040C>T | ||
| ENST00000684241.1:n.2575C>T | ||
| ENST00000262186.10:c.1742C>T MANE Select | ENSP00000262186.5:p.Ser581Leu | |
| ENST00000330883.9:c.722C>T | ENSP00000328531.4:p.Ser241Leu | |
| ENST00000262186.9:c.1742C>T | ENSP00000262186.5:p.Ser581Leu | |
| ENST00000330883.8:c.722C>T | ENSP00000328531.4:p.Ser241Leu | |
| ENST00000430723.4:c.1394C>T | ENSP00000387657.4:p.Ser465Leu | |
| ENST00000461280.1:n.1029C>T | ||
| ENST00000473610.5:n.1047C>T | ||
| ENST00000532957.5:n.1965C>T | ||
| NM_000238.3:c.1742C>T , LRG_288t1:c.1742C>T | NP_000229.1:p.Ser581Leu | |
| NM_001204798.1:c.722C>T | NP_001191727.1:p.Ser241Leu | |
| NM_172056.2:c.1742C>T , LRG_288t2:c.1742C>T | NP_742053.1:p.Ser581Leu | |
| NM_172057.2:c.722C>T , LRG_288t3:c.722C>T | NP_742054.1:p.Ser241Leu | |
| XM_011516185.1:c.1442C>T | XP_011514487.1:p.Ser481Leu | |
| XM_011516186.1:c.1742C>T | XP_011514488.1:p.Ser581Leu | |
| XM_011516185.2:c.1442C>T | XP_011514487.1:p.Ser481Leu | |
| XM_011516186.3:c.1742C>T | XP_011514488.1:p.Ser581Leu | |
| XM_017012195.1:c.1592C>T | XP_016867684.1:p.Ser531Leu | |
| XM_017012196.1:c.1565C>T | XP_016867685.1:p.Ser522Leu | |
| NM_000238.4:c.1742C>T MANE Select | NP_000229.1:p.Ser581Leu | |
| NM_001204798.2:c.722C>T | NP_001191727.1:p.Ser241Leu | |
| NM_172057.3:c.722C>T | NP_742054.1:p.Ser241Leu |