Linked Data
ClinVar Variation Id:
67426
ClinVar RCV Id:
RCV000058151
RCV000699702
RCV000988000
RCV001256913
RCV001588890
RCV001841715
RCV004019008
dbSNP Id:
rs199473434
ExAC:
7:150645540 G / A
gnomAD v2:
7-150645540-G-A
gnomAD v3:
7-150948452-G-A
gnomAD v4:
7-150948452-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948452G>A , CM000669.2:g.150948452G>A | GRCh38 |
| NC_000007.13:g.150645540G>A , CM000669.1:g.150645540G>A | GRCh37 |
| NC_000007.12:g.150276473G>A | NCBI36 |
| NG_008916.1:g.34475C>T , LRG_288:g.34475C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3517C>T | ||
| ENST00000262186.10:c.2684C>T MANE Select | ENSP00000262186.5:p.Thr895Met | |
| ENST00000330883.9:c.1664C>T | ENSP00000328531.4:p.Thr555Met | |
| ENST00000262186.9:c.2684C>T | ENSP00000262186.5:p.Thr895Met | |
| ENST00000330883.8:c.1664C>T | ENSP00000328531.4:p.Thr555Met | |
| NM_000238.3:c.2684C>T , LRG_288t1:c.2684C>T | NP_000229.1:p.Thr895Met | |
| NM_172057.2:c.1664C>T , LRG_288t3:c.1664C>T | NP_742054.1:p.Thr555Met | |
| XM_011516185.1:c.2384C>T | XP_011514487.1:p.Thr795Met | |
| XM_011516186.1:c.2684C>T | XP_011514488.1:p.Thr895Met | |
| XM_011516185.2:c.2384C>T | XP_011514487.1:p.Thr795Met | |
| XM_011516186.3:c.2684C>T | XP_011514488.1:p.Thr895Met | |
| XM_017012195.1:c.2534C>T | XP_016867684.1:p.Thr845Met | |
| XM_017012196.1:c.2507C>T | XP_016867685.1:p.Thr836Met | |
| NM_000238.4:c.2684C>T MANE Select | NP_000229.1:p.Thr895Met | |
| NM_172057.3:c.1664C>T | NP_742054.1:p.Thr555Met |