Linked Data
ClinVar Variation Id:
2948648
ClinVar RCV Id:
RCV003809422
MyVariant Identifiers:
chr14:g.77753158G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77286815G>T , CM000676.2:g.77286815G>T | GRCh38 |
| NC_000014.8:g.77753158G>T , CM000676.1:g.77753158G>T | GRCh37 |
| NC_000014.7:g.76822911G>T | NCBI36 |
| NG_008897.1:g.39068C>A , LRG_844:g.39068C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.802C>A | ENSP00000451967.2:p.Arg268= | |
| ENST00000682247.1:c.1261C>A | ENSP00000507213.1:p.Arg421= | |
| ENST00000682382.1:c.833C>A | ||
| ENST00000682395.1:n.1439C>A | ||
| ENST00000682459.1:n.964C>A | ||
| ENST00000682467.1:c.1261C>A | ENSP00000508062.1:p.Arg421= | |
| ENST00000682706.1:n.38C>A | ||
| ENST00000682795.1:c.1261C>A | ENSP00000507574.1:p.Arg421= | |
| ENST00000682895.1:n.977C>A | ||
| ENST00000682955.1:n.549C>A | ||
| ENST00000683188.1:c.1236C>A | ||
| ENST00000683328.1:c.254C>A | ENSP00000508096.1:n.254C>A | |
| ENST00000683380.1:n.925C>A | ||
| ENST00000683828.1:c.970C>A | ||
| ENST00000684259.1:n.1112C>A | ||
| ENST00000684444.1:c.8C>A | ||
| ENST00000684549.1:n.812C>A | ||
| ENST00000261534.9:c.1261C>A MANE Select | ENSP00000261534.4:p.Arg421= | |
| ENST00000261534.8:c.1261C>A | ENSP00000261534.4:p.Arg421= | |
| ENST00000452340.7:n.1284C>A | ||
| ENST00000553880.5:n.132C>A | ||
| ENST00000554767.5:n.2047C>A | ||
| ENST00000554884.5:n.253C>A | ||
| ENST00000556404.1:n.395C>A | ||
| ENST00000556851.1:n.297C>A | ||
| ENST00000557675.5:n.351C>A | ||
| NM_013382.5:c.1261C>A , LRG_844t1:c.1261C>A | NP_037514.2:p.Arg421= | |
| XM_011536675.1:c.1261C>A | XP_011534977.1:p.Arg421= | |
| XM_011536676.1:c.928C>A | XP_011534978.1:p.Arg310= | |
| XM_011536677.1:c.802C>A | XP_011534979.1:p.Arg268= | |
| XM_011536678.1:c.1261C>A | XP_011534980.1:p.Arg421= | |
| XM_011536679.1:c.355C>A | XP_011534981.1:p.Arg119= | |
| XR_943416.1:n.1464C>A | ||
| XM_011536675.2:c.1261C>A | XP_011534977.1:p.Arg421= | |
| XM_011536676.2:c.928C>A | XP_011534978.1:p.Arg310= | |
| XM_011536677.3:c.802C>A | XP_011534979.1:p.Arg268= | |
| XR_001750279.1:n.1461C>A | ||
| XR_001750282.1:n.1914C>A | ||
| XR_943416.3:n.1462C>A | ||
| NM_013382.6:c.1261C>A | NP_037514.2:p.Arg421= | |
| NM_013382.7:c.1261C>A MANE Select | NP_037514.2:p.Arg421= |