Linked Data
ClinVar Variation Id:
1708
dbSNP Id:
rs121917903
gnomAD v2:
10-50740782-G-A
gnomAD v3:
10-49532736-G-A
gnomAD v4:
10-49532736-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49532736G>A , CM000672.2:g.49532736G>A | GRCh38 |
| NC_000010.10:g.50740782G>A , CM000672.1:g.50740782G>A | GRCh37 |
| NC_000010.9:g.50410788G>A | NCBI36 |
| NG_009442.1:g.11366C>T , LRG_465:g.11366C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.229C>T MANE Select | ENSP00000348089.5:p.Arg77Ter | |
| ENST00000447839.7:c.229C>T MANE Plus Clinical | ENSP00000387966.2:p.Arg77Ter | |
| ENST00000679596.1:c.222C>T | ENSP00000504862.1:p.Thr74= | |
| ENST00000679811.1:n.312C>T | ||
| ENST00000680107.1:c.229C>T | ENSP00000505909.1:p.Arg77Ter | |
| ENST00000680233.1:n.322C>T | ||
| ENST00000681632.1:n.307C>T | ||
| ENST00000681659.1:c.229C>T | ENSP00000505631.1:p.Arg77Ter | |
| ENST00000355832.9:c.229C>T | ENSP00000348089.5:p.Arg77Ter | |
| ENST00000447839.6:c.229C>T | ENSP00000387966.2:p.Arg77Ter | |
| ENST00000462247.1:c.229C>T | ENSP00000422827.1:p.Arg77Ter | |
| ENST00000515869.1:c.229C>T | ENSP00000423550.1:p.Arg77Ter | |
| NM_000124.3:c.229C>T | NP_000115.1:p.Arg77Ter | |
| NM_001277058.1:c.229C>T | NP_001263987.1:p.Arg77Ter | |
| NM_001277059.1:c.229C>T | NP_001263988.1:p.Arg77Ter | |
| NM_001346440.1:c.229C>T | NP_001333369.1:p.Arg77Ter | |
| NM_000124.4:c.229C>T MANE Select | NP_000115.1:p.Arg77Ter | |
| NM_001277058.2:c.229C>T MANE Plus Clinical | NP_001263987.1:p.Arg77Ter | |
| NM_001277059.2:c.229C>T | NP_001263988.1:p.Arg77Ter | |
| NM_001346440.2:c.229C>T | NP_001333369.1:p.Arg77Ter |