Linked Data
ClinVar Variation Id:
189340
ClinVar RCV Id:
RCV000169756
dbSNP Id:
rs786204845
PubMed:
PMID:25683121
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.118815511G>A , CM000666.2:g.118815511G>A | GRCh38 |
| NC_000004.11:g.119736666G>A , CM000666.1:g.119736666G>A | GRCh37 |
| NC_000004.10:g.119956114G>A | NCBI36 |
| NG_042032.1:g.25661C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280551.11:c.613C>T MANE Select | ENSP00000280551.6:p.Gln205Ter | |
| ENST00000280551.10:c.613C>T | ENSP00000280551.6:p.Gln205Ter | |
| ENST00000419654.6:c.-720C>T | ENSP00000388324.2:n.-720C>T | |
| ENST00000506622.5:c.720C>T | ENSP00000427249.1:p.Pro240= | |
| ENST00000509818.5:c.464C>T | ENSP00000424085.1:p.Pro155Leu | |
| ENST00000514561.5:c.*587C>T | ENSP00000422717.1:n.*587C>T | |
| NM_014822.2:c.613C>T | NP_055637.2:p.Gln205Ter | |
| XM_005263378.1:c.613C>T | XP_005263435.1:p.Gln205Ter | |
| XM_005263379.1:c.613C>T | XP_005263436.1:p.Gln205Ter | |
| XM_011532435.1:c.613C>T | XP_011530737.1:p.Gln205Ter | |
| XM_011532436.1:c.613C>T | XP_011530738.1:p.Gln205Ter | |
| NM_001318066.1:c.613C>T | NP_001304995.1:p.Gln205Ter | |
| NM_014822.3:c.613C>T | NP_055637.2:p.Gln205Ter | |
| XM_005263379.3:c.613C>T | XP_005263436.1:p.Gln205Ter | |
| XM_024454293.1:c.613C>T | XP_024310061.1:p.Gln205Ter | |
| NM_014822.4:c.613C>T MANE Select | NP_055637.2:p.Gln205Ter | |
| NM_001318066.2:c.613C>T | NP_001304995.1:p.Gln205Ter |