Linked Data
ClinVar Variation Id:
375567
dbSNP Id:
rs1057519572
gnomAD v2:
10-69957119-C-T
gnomAD v4:
10-68197362-C-T
PubMed:
PMID:28017374
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68197362C>T , CM000672.2:g.68197362C>T | GRCh38 |
| NC_000010.10:g.69957119C>T , CM000672.1:g.69957119C>T | GRCh37 |
| NC_000010.9:g.69627125C>T | NCBI36 |
| NG_032118.1:g.96246C>T , LRG_410:g.96246C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354393.7:c.2344C>T | ENSP00000346369.2:p.Arg782Ter | |
| ENST00000540630.6:c.3223C>T | ENSP00000441668.3:p.Arg1075Ter | |
| ENST00000613327.5:c.3169C>T | ENSP00000480757.2:p.Arg1057Ter | |
| ENST00000688812.1:c.*432C>T | ENSP00000510658.1:n.*432C>T | |
| ENST00000690544.1:c.*2440C>T | ENSP00000508989.1:n.*2440C>T | |
| ENST00000358913.10:c.3169C>T MANE Select | ENSP00000351790.5:p.Arg1057Ter | |
| ENST00000354393.6:c.2344C>T | ENSP00000346369.2:p.Arg782Ter | |
| ENST00000358913.9:c.3169C>T | ENSP00000351790.5:p.Arg1057Ter | |
| ENST00000540630.5:c.3169C>T | ENSP00000441668.2:p.Arg1057Ter | |
| ENST00000613327.4:c.2287C>T | ENSP00000480757.1:p.Arg763Ter | |
| NM_001256267.1:c.3169C>T | NP_001243196.1:p.Arg1057Ter | |
| NM_001256268.1:c.2287C>T | NP_001243197.1:p.Arg763Ter | |
| NM_032578.3:c.3169C>T , LRG_410t1:c.3169C>T | NP_115967.2:p.Arg1057Ter | |
| NR_045662.3:n.2596C>T | ||
| NR_045663.3:n.3298C>T | ||
| XM_006718043.2:c.3223C>T | XP_006718106.1:p.Arg1075Ter | |
| XM_011540292.1:c.3199C>T | XP_011538594.1:p.Arg1067Ter | |
| XM_017016833.1:c.3247C>T | XP_016872322.1:p.Arg1083Ter | |
| XM_017016834.2:c.3169C>T | XP_016872323.1:p.Arg1057Ter | |
| XM_024448236.1:c.2047C>T | XP_024304004.1:p.Arg683Ter | |
| NR_045662.4:n.2706C>T | ||
| NR_045663.4:n.3243C>T | ||
| NM_001256267.2:c.3169C>T | NP_001243196.1:p.Arg1057Ter | |
| NM_001256268.2:c.2287C>T | NP_001243197.1:p.Arg763Ter | |
| NM_032578.4:c.3169C>T MANE Select | NP_115967.2:p.Arg1057Ter |