Linked Data
ClinVar Variation Id:
14432
dbSNP Id:
rs121912510
ExAC:
7:150646083 G / A
gnomAD v2:
7-150646083-G-A
gnomAD v4:
7-150948995-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948995G>A , CM000669.2:g.150948995G>A | GRCh38 |
| NC_000007.13:g.150646083G>A , CM000669.1:g.150646083G>A | GRCh37 |
| NC_000007.12:g.150277016G>A | NCBI36 |
| NG_008916.1:g.33932C>T , LRG_288:g.33932C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3286C>T | ||
| ENST00000262186.10:c.2453C>T MANE Select | ENSP00000262186.5:p.Ser818Leu | |
| ENST00000330883.9:c.1433C>T | ENSP00000328531.4:p.Ser478Leu | |
| ENST00000262186.9:c.2453C>T | ENSP00000262186.5:p.Ser818Leu | |
| ENST00000330883.8:c.1433C>T | ENSP00000328531.4:p.Ser478Leu | |
| NM_000238.3:c.2453C>T , LRG_288t1:c.2453C>T | NP_000229.1:p.Ser818Leu | |
| NM_172057.2:c.1433C>T , LRG_288t3:c.1433C>T | NP_742054.1:p.Ser478Leu | |
| XM_011516185.1:c.2153C>T | XP_011514487.1:p.Ser718Leu | |
| XM_011516186.1:c.2453C>T | XP_011514488.1:p.Ser818Leu | |
| XM_011516185.2:c.2153C>T | XP_011514487.1:p.Ser718Leu | |
| XM_011516186.3:c.2453C>T | XP_011514488.1:p.Ser818Leu | |
| XM_017012195.1:c.2303C>T | XP_016867684.1:p.Ser768Leu | |
| XM_017012196.1:c.2276C>T | XP_016867685.1:p.Ser759Leu | |
| NM_000238.4:c.2453C>T MANE Select | NP_000229.1:p.Ser818Leu | |
| NM_172057.3:c.1433C>T | NP_742054.1:p.Ser478Leu |