Linked Data
ClinVar Variation Id:
376053
ClinVar RCV Id:
RCV000427562
dbSNP Id:
rs121913277
CIViC:
CA16602520
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179234302G>C , CM000665.2:g.179234302G>C | GRCh38 |
| NC_000003.11:g.178952090G>C , CM000665.1:g.178952090G>C | GRCh37 |
| NC_000003.10:g.180434784G>C | NCBI36 |
| NG_012113.2:g.90780G>C , LRG_310:g.90780G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263967.4:c.3145G>C MANE Select | ENSP00000263967.3:p.Gly1049Arg | |
| ENST00000462255.2:n.2168G>C | ||
| ENST00000643187.1:c.*225G>C | ENSP00000493507.1:n.*225G>C | |
| ENST00000674534.1:n.4053G>C | ||
| ENST00000674622.1:c.1566G>C | ENSP00000502417.1:n.1566G>C | |
| ENST00000675467.1:n.5952G>C | ||
| ENST00000675786.1:c.*1712G>C | ENSP00000502323.1:n.*1712G>C | |
| ENST00000675796.1:n.3040G>C | ||
| ENST00000263967.3:c.3145G>C | ENSP00000263967.3:p.Gly1049Arg | |
| NM_006218.2:c.3145G>C , LRG_310t1:c.3145G>C | NP_006209.2:p.Gly1049Arg | |
| XM_006713658.2:c.3145G>C | XP_006713721.1:p.Gly1049Arg | |
| XM_011512894.1:c.3145G>C | XP_011511196.1:p.Gly1049Arg | |
| NM_006218.3:c.3145G>C | NP_006209.2:p.Gly1049Arg | |
| XM_006713658.4:c.3145G>C | XP_006713721.1:p.Gly1049Arg | |
| XM_011512894.2:c.3145G>C | XP_011511196.1:p.Gly1049Arg | |
| NM_006218.4:c.3145G>C MANE Select | NP_006209.2:p.Gly1049Arg |