Linked Data
ClinVar Variation Id:
157663
ClinVar RCV Id:
RCV000144958
dbSNP Id:
rs200296680
PubMed:
PMID:25216719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42316223C>T , CM000670.2:g.42316223C>T | GRCh38 |
| NC_000008.10:g.42173741C>T , CM000670.1:g.42173741C>T | GRCh37 |
| NC_000008.9:g.42292898C>T | NCBI36 |
| NG_041793.1:g.49922C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000416505.7:c.477C>T | ||
| ENST00000520810.6:c.814C>T MANE Select | ENSP00000430684.1:p.Arg272Ter | |
| ENST00000520835.7:c.622C>T | ENSP00000430868.2:p.Arg208Ter | |
| ENST00000629753.2:c.*628C>T | ENSP00000486961.2:n.*628C>T | |
| ENST00000648136.2:n.578C>T | ||
| ENST00000649612.3:c.578C>T | ||
| ENST00000676525.1:c.416C>T | ENSP00000503997.1:n.416C>T | |
| ENST00000342222.6:c.*375C>T | ENSP00000339151.2:n.*375C>T | |
| ENST00000416505.5:c.637C>T | ENSP00000404920.2:p.Arg213Ter | |
| ENST00000517890.5:c.*572C>T | ENSP00000428799.1:n.*572C>T | |
| ENST00000517917.5:n.700C>T | ||
| ENST00000518647.5:n.912C>T | ||
| ENST00000518679.5:c.*95C>T | ENSP00000430557.1:n.*95C>T | |
| ENST00000520201.5:n.818C>T | ||
| ENST00000520655.5:c.814C>T | ENSP00000428922.1:p.Arg272Ter | |
| ENST00000520810.5:c.814C>T | ENSP00000430684.1:p.Arg272Ter | |
| ENST00000520835.5:c.808C>T | ENSP00000430868.1:p.Arg270Ter | |
| ENST00000521661.5:c.814C>T | ENSP00000428186.1:p.Arg272Ter | |
| ENST00000522147.4:c.106-14984C>T | ENSP00000428892.1:n.106-14984C>T | |
| ENST00000522545.1:n.419C>T | ||
| ENST00000523105.5:c.*572C>T | ENSP00000429239.1:n.*572C>T | |
| ENST00000523517.5:c.814C>T | ENSP00000430114.1:p.Arg272Ter | |
| ENST00000629753.1:c.814C>T | ENSP00000486961.1:p.Arg272Ter | |
| NM_001190720.2:c.808C>T | NP_001177649.1:p.Arg270Ter | |
| NM_001242778.1:c.637C>T | NP_001229707.1:p.Arg213Ter | |
| NM_001556.2:c.814C>T | NP_001547.1:p.Arg272Ter | |
| NR_033818.1:n.1056C>T | ||
| NR_033819.1:n.1000C>T | ||
| NR_040009.1:n.1000C>T | ||
| XM_005273490.1:c.814C>T | XP_005273547.1:p.Arg272Ter | |
| XM_005273491.3:c.637C>T | XP_005273548.1:p.Arg213Ter | |
| XM_005273492.2:c.814C>T | XP_005273549.1:p.Arg272Ter | |
| XM_005273493.2:c.499C>T | XP_005273550.1:p.Arg167Ter | |
| XM_005273494.1:c.814C>T | XP_005273551.1:p.Arg272Ter | |
| XM_005273495.1:c.184C>T | XP_005273552.1:p.Arg62Ter | |
| XM_005273496.2:c.184C>T | XP_005273553.1:p.Arg62Ter | |
| XM_005273498.2:c.184C>T | XP_005273555.1:p.Arg62Ter | |
| XM_011544517.1:c.814C>T | XP_011542819.1:p.Arg272Ter | |
| XM_011544518.1:c.664C>T | XP_011542820.1:p.Arg222Ter | |
| XM_011544519.1:c.637C>T | XP_011542821.1:p.Arg213Ter | |
| XM_011544520.1:c.559C>T | XP_011542822.1:p.Arg187Ter | |
| XM_011544521.1:c.184C>T | XP_011542823.1:p.Arg62Ter | |
| XM_011544522.1:c.-24C>T | XP_011542824.1:n.-24C>T | |
| XR_949402.1:n.900C>T | ||
| NM_001556.3:c.814C>T MANE Select | NP_001547.1:p.Arg272Ter | |
| XM_005273490.3:c.814C>T | XP_005273547.1:p.Arg272Ter | |
| XM_005273491.5:c.637C>T | XP_005273548.1:p.Arg213Ter | |
| XM_005273492.4:c.814C>T | XP_005273549.1:p.Arg272Ter | |
| XM_005273493.4:c.499C>T | XP_005273550.1:p.Arg167Ter | |
| XM_005273494.3:c.814C>T | XP_005273551.1:p.Arg272Ter | |
| XM_005273495.2:c.184C>T | XP_005273552.1:p.Arg62Ter | |
| XM_005273496.4:c.184C>T | XP_005273553.1:p.Arg62Ter | |
| XM_005273498.4:c.184C>T | XP_005273555.1:p.Arg62Ter | |
| XM_011544517.2:c.814C>T | XP_011542819.1:p.Arg272Ter | |
| XM_011544518.2:c.664C>T | XP_011542820.1:p.Arg222Ter | |
| XM_011544519.2:c.637C>T | XP_011542821.1:p.Arg213Ter | |
| XM_011544520.2:c.559C>T | XP_011542822.1:p.Arg187Ter | |
| XM_011544521.2:c.184C>T | XP_011542823.1:p.Arg62Ter | |
| XM_011544522.2:c.-24C>T | XP_011542824.1:n.-24C>T | |
| XM_017013396.1:c.-24C>T | XP_016868885.1:n.-24C>T | |
| XR_001745530.2:n.998C>T | ||
| XR_949402.3:n.1480C>T | ||
| NM_001242778.2:c.637C>T | NP_001229707.1:p.Arg213Ter | |
| NR_033818.2:n.1056C>T | ||
| NR_033819.2:n.1000C>T | ||
| NR_040009.2:n.1000C>T | ||
| NM_001190720.3:c.622C>T | NP_001177649.2:p.Arg208Ter |