Linked Data
ClinVar Variation Id:
287219
dbSNP Id:
rs55698015
ExAC:
10:50690806 G / A
gnomAD v2:
10-50690806-G-A
gnomAD v3:
10-49482760-G-A
gnomAD v4:
10-49482760-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49482760G>A , CM000672.2:g.49482760G>A | GRCh38 |
| NC_000010.10:g.50690806G>A , CM000672.1:g.50690806G>A | GRCh37 |
| NC_000010.9:g.50360812G>A | NCBI36 |
| NG_009442.1:g.61342C>T , LRG_465:g.61342C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355832.10:c.2096C>T MANE Select | ENSP00000348089.5:p.Thr699Met | |
| ENST00000681632.1:n.2174C>T | ||
| ENST00000681659.1:c.1937C>T | ENSP00000505631.1:p.Thr646Met | |
| ENST00000355832.9:c.2096C>T | ENSP00000348089.5:p.Thr699Met | |
| ENST00000623073.3:c.*488C>T | ENSP00000485650.1:n.*488C>T | |
| ENST00000623115.3:c.206C>T | ENSP00000485321.1:p.Thr69Met | |
| NM_000124.3:c.2096C>T | NP_000115.1:p.Thr699Met | |
| NM_001346440.1:c.2096C>T | NP_001333369.1:p.Thr699Met | |
| NM_000124.4:c.2096C>T MANE Select | NP_000115.1:p.Thr699Met | |
| NM_001346440.2:c.2096C>T | NP_001333369.1:p.Thr699Met |