Linked Data
ClinVar Variation Id:
212733
dbSNP Id:
rs751838040
ExAC:
10:50738843 G / A
gnomAD v2:
10-50738843-G-A
gnomAD v3:
10-49530797-G-A
gnomAD v4:
10-49530797-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49530797G>A , CM000672.2:g.49530797G>A | GRCh38 |
| NC_000010.10:g.50738843G>A , CM000672.1:g.50738843G>A | GRCh37 |
| NC_000010.9:g.50408849G>A | NCBI36 |
| NG_009442.1:g.13305C>T , LRG_465:g.13305C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355832.10:c.466C>T MANE Select | ENSP00000348089.5:p.Gln156Ter | |
| ENST00000447839.7:c.466C>T MANE Plus Clinical | ENSP00000387966.2:p.Gln156Ter | |
| ENST00000679596.1:c.*172+1746C>T | ENSP00000504862.1:n.*172+1746C>T | |
| ENST00000679811.1:n.549C>T | ||
| ENST00000680107.1:c.466C>T | ENSP00000505909.1:p.Gln156Ter | |
| ENST00000680233.1:n.559C>T | ||
| ENST00000681632.1:n.544C>T | ||
| ENST00000681659.1:c.466C>T | ENSP00000505631.1:p.Gln156Ter | |
| ENST00000355832.9:c.466C>T | ENSP00000348089.5:p.Gln156Ter | |
| ENST00000447839.6:c.466C>T | ENSP00000387966.2:p.Gln156Ter | |
| ENST00000462247.1:c.466C>T | ENSP00000422827.1:p.Gln156Ter | |
| ENST00000515869.1:c.466C>T | ENSP00000423550.1:p.Gln156Ter | |
| NM_000124.3:c.466C>T | NP_000115.1:p.Gln156Ter | |
| NM_001277058.1:c.466C>T | NP_001263987.1:p.Gln156Ter | |
| NM_001277059.1:c.466C>T | NP_001263988.1:p.Gln156Ter | |
| NM_001346440.1:c.466C>T | NP_001333369.1:p.Gln156Ter | |
| NM_000124.4:c.466C>T MANE Select | NP_000115.1:p.Gln156Ter | |
| NM_001277058.2:c.466C>T MANE Plus Clinical | NP_001263987.1:p.Gln156Ter | |
| NM_001277059.2:c.466C>T | NP_001263988.1:p.Gln156Ter | |
| NM_001346440.2:c.466C>T | NP_001333369.1:p.Gln156Ter |