Linked Data
ClinVar Variation Id:
1957056
ClinVar RCV Id:
RCV002706010
dbSNP Id:
rs373893264
ExAC:
10:50678929 C / T
gnomAD v2:
10-50678929-C-T
gnomAD v3:
10-49470883-C-T
gnomAD v4:
10-49470883-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470883C>T , CM000672.2:g.49470883C>T | GRCh38 |
| NC_000010.10:g.50678929C>T , CM000672.1:g.50678929C>T | GRCh37 |
| NC_000010.9:g.50348935C>T | NCBI36 |
| NG_009442.1:g.73219G>A , LRG_465:g.73219G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3077G>A MANE Select | ENSP00000348089.5:p.Gly1026Glu | |
| ENST00000679552.1:n.148G>A | ||
| ENST00000679871.1:n.223G>A | ||
| ENST00000679974.1:n.126G>A | ||
| ENST00000681632.1:n.4480G>A | ||
| ENST00000681659.1:c.2918G>A | ENSP00000505631.1:p.Gly973Glu | |
| ENST00000355832.9:c.3077G>A | ENSP00000348089.5:p.Gly1026Glu | |
| ENST00000623073.3:c.*1373G>A | ENSP00000485650.1:n.*1373G>A | |
| ENST00000623115.3:c.1187G>A | ENSP00000485321.1:p.Gly396Glu | |
| ENST00000624341.3:c.909G>A | ||
| NM_000124.3:c.3077G>A | NP_000115.1:p.Gly1026Glu | |
| XR_945953.1:n.243-682C>T | ||
| NM_001346440.1:c.3077G>A | NP_001333369.1:p.Gly1026Glu | |
| NM_000124.4:c.3077G>A MANE Select | NP_000115.1:p.Gly1026Glu | |
| NM_001346440.2:c.3077G>A | NP_001333369.1:p.Gly1026Glu |