Linked Data
ClinVar Variation Id:
376258
dbSNP Id:
rs1057519838
gnomAD v4:
5-68293790-C-T
PubMed:
PMID:25157968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.68293790C>T , CM000667.2:g.68293790C>T | GRCh38 |
| NC_000005.9:g.67589618C>T , CM000667.1:g.67589618C>T | GRCh37 |
| NC_000005.8:g.67625374C>T | NCBI36 |
| NG_012849.2:g.83035C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320694.13:c.481C>T | ENSP00000323512.8:p.Arg161Ter | |
| ENST00000336483.10:c.571C>T | ENSP00000338554.5:p.Arg191Ter | |
| ENST00000517643.2:c.1381C>T | ENSP00000513333.1:p.Arg461Ter | |
| ENST00000517698.6:c.*351C>T | ENSP00000430424.1:n.*351C>T | |
| ENST00000521657.6:c.1381C>T | ENSP00000429277.1:p.Arg461Ter | |
| ENST00000522084.6:c.571C>T | ENSP00000429766.2:p.Arg191Ter | |
| ENST00000697457.1:c.1306C>T | ENSP00000513315.1:p.Arg436Ter | |
| ENST00000697458.1:c.1381C>T | ENSP00000513316.1:p.Arg461Ter | |
| ENST00000697460.1:c.856C>T | ENSP00000513318.1:p.Arg286Ter | |
| ENST00000697461.1:c.1381C>T | ENSP00000513319.1:p.Arg461Ter | |
| ENST00000697462.1:c.571C>T | ENSP00000513320.1:p.Arg191Ter | |
| ENST00000697463.1:n.1022C>T | ||
| ENST00000697464.1:c.*347C>T | ENSP00000513322.1:n.*347C>T | |
| ENST00000697465.1:c.418C>T | ENSP00000513323.1:p.Arg140Ter | |
| ENST00000697466.1:c.388C>T | ENSP00000513324.1:p.Arg130Ter | |
| ENST00000697467.1:c.292C>T | ENSP00000513325.1:p.Arg98Ter | |
| ENST00000697468.1:c.364C>T | ENSP00000513326.1:p.Arg122Ter | |
| ENST00000697469.1:c.73C>T | ENSP00000513327.1:p.Arg25Ter | |
| ENST00000697557.1:c.364C>T | ENSP00000513335.1:p.Arg122Ter | |
| ENST00000521381.6:c.1381C>T MANE Select | ENSP00000428056.1:p.Arg461Ter | |
| ENST00000320694.12:c.481C>T | ENSP00000323512.8:p.Arg161Ter | |
| ENST00000336483.9:c.571C>T | ENSP00000338554.5:p.Arg191Ter | |
| ENST00000517698.5:c.*351C>T | ENSP00000430424.1:n.*351C>T | |
| ENST00000518813.5:n.1924C>T | ||
| ENST00000519025.5:c.400C>T | ENSP00000429156.1:p.Arg134Ter | |
| ENST00000520550.1:n.780C>T | ||
| ENST00000521381.5:c.1381C>T | ENSP00000428056.1:p.Arg461Ter | |
| ENST00000521409.5:c.292C>T | ENSP00000431058.1:p.Arg98Ter | |
| ENST00000521657.5:c.1381C>T | ENSP00000429277.1:p.Arg461Ter | |
| ENST00000523872.1:c.292C>T | ENSP00000430098.1:p.Arg98Ter | |
| NM_001242466.1:c.292C>T | NP_001229395.1:p.Arg98Ter | |
| NM_181504.3:c.571C>T | NP_852556.2:p.Arg191Ter | |
| NM_181523.2:c.1381C>T | NP_852664.1:p.Arg461Ter | |
| NM_181524.1:c.481C>T | NP_852665.1:p.Arg161Ter | |
| XM_005248542.2:c.1381C>T | XP_005248599.1:p.Arg461Ter | |
| XM_011543493.1:c.1054C>T | XP_011541795.1:p.Arg352Ter | |
| XM_005248542.3:c.1381C>T | XP_005248599.1:p.Arg461Ter | |
| XM_011543493.3:c.1054C>T | XP_011541795.1:p.Arg352Ter | |
| XM_017009585.2:c.1381C>T | XP_016865074.1:p.Arg461Ter | |
| XM_017009586.1:c.1108C>T | XP_016865075.1:p.Arg370Ter | |
| NM_181523.3:c.1381C>T MANE Select | NP_852664.1:p.Arg461Ter | |
| NM_001242466.2:c.292C>T | NP_001229395.1:p.Arg98Ter | |
| NM_181504.4:c.571C>T | NP_852556.2:p.Arg191Ter | |
| NM_181524.2:c.481C>T | NP_852665.1:p.Arg161Ter |