Linked Data
ClinVar Variation Id:
300059
dbSNP Id:
rs142580756
ExAC:
10:50681043 G / A
gnomAD v2:
10-50681043-G-A
gnomAD v3:
10-49472997-G-A
gnomAD v4:
10-49472997-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49472997G>A , CM000672.2:g.49472997G>A | GRCh38 |
| NC_000010.10:g.50681043G>A , CM000672.1:g.50681043G>A | GRCh37 |
| NC_000010.9:g.50351049G>A | NCBI36 |
| NG_009442.1:g.71105C>T , LRG_465:g.71105C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.2741C>T MANE Select | ENSP00000348089.5:p.Thr914Met | |
| ENST00000681632.1:n.3706C>T | ||
| ENST00000681659.1:c.2582C>T | ENSP00000505631.1:p.Thr861Met | |
| ENST00000355832.9:c.2741C>T | ENSP00000348089.5:p.Thr914Met | |
| ENST00000623073.3:c.*1037C>T | ENSP00000485650.1:n.*1037C>T | |
| ENST00000623115.3:c.851C>T | ENSP00000485321.1:p.Thr284Met | |
| ENST00000624341.3:c.573C>T | ||
| NM_000124.3:c.2741C>T | NP_000115.1:p.Thr914Met | |
| NM_001346440.1:c.2741C>T | NP_001333369.1:p.Thr914Met | |
| NM_000124.4:c.2741C>T MANE Select | NP_000115.1:p.Thr914Met | |
| NM_001346440.2:c.2741C>T | NP_001333369.1:p.Thr914Met |