Linked Data
ClinVar Variation Id:
372155
ClinVar RCV Id:
RCV000412497
dbSNP Id:
rs1057519075
PubMed:
PMID:27405666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.65739816C>T , CM000685.2:g.65739816C>T | GRCh38 |
| NC_000023.10:g.64959678C>T , CM000685.1:g.64959678C>T | GRCh37 |
| NC_000023.9:g.64876403C>T | NCBI36 |
| NG_012516.1:g.77168C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697133.1:c.1624C>T | ENSP00000513131.1:p.Arg542Ter | |
| ENST00000697134.1:c.*1629C>T | ENSP00000513132.1:n.*1629C>T | |
| ENST00000697135.1:n.3239C>T | ||
| ENST00000697137.1:c.1624C>T | ENSP00000513133.1:p.Arg542Ter | |
| ENST00000697138.1:c.1624C>T | ENSP00000513134.1:p.Arg542Ter | |
| ENST00000697140.1:n.1771C>T | ||
| ENST00000697142.1:n.1574C>T | ||
| ENST00000360270.7:c.1657C>T MANE Select | ENSP00000353408.5:p.Arg553Ter | |
| ENST00000360270.6:c.1657C>T | ENSP00000353408.5:p.Arg553Ter | |
| NM_002444.2:c.1657C>T | NP_002435.1:p.Arg553Ter | |
| XM_005262269.2:c.1660C>T | XP_005262326.1:p.Arg554Ter | |
| XM_011530959.1:c.1756C>T | XP_011529261.1:p.Arg586Ter | |
| XM_011530960.1:c.1624C>T | XP_011529262.1:p.Arg542Ter | |
| XM_017029545.1:c.1624C>T | XP_016885034.1:p.Arg542Ter | |
| XM_017029546.1:c.1624C>T | XP_016885035.1:p.Arg542Ter | |
| NM_002444.3:c.1657C>T MANE Select | NP_002435.1:p.Arg553Ter |