Linked Data
ClinVar Variation Id:
2944323
ClinVar RCV Id:
RCV003806073
MyVariant Identifiers:
chr14:g.77772707C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77306364C>T , CM000676.2:g.77306364C>T | GRCh38 |
| NC_000014.8:g.77772707C>T , CM000676.1:g.77772707C>T | GRCh37 |
| NC_000014.7:g.76842460C>T | NCBI36 |
| NG_008897.1:g.19519G>A , LRG_844:g.19519G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555675.6:n.140G>A | ||
| ENST00000556394.2:c.249-1564G>A | ENSP00000451967.2:n.249-1564G>A | |
| ENST00000556880.6:n.344G>A | ||
| ENST00000682247.1:c.411G>A | ENSP00000507213.1:p.Glu137= | |
| ENST00000682382.1:c.359G>A | ||
| ENST00000682395.1:n.140G>A | ||
| ENST00000682459.1:n.102+38G>A | ||
| ENST00000682467.1:c.411G>A | ENSP00000508062.1:p.Glu137= | |
| ENST00000682795.1:c.411G>A | ENSP00000507574.1:p.Glu137= | |
| ENST00000682895.1:n.127G>A | ||
| ENST00000682955.1:n.102+38G>A | ||
| ENST00000683188.1:c.206G>A | ||
| ENST00000683380.1:n.102+38G>A | ||
| ENST00000683828.1:c.280G>A | ||
| ENST00000684066.1:n.106G>A | ||
| ENST00000684102.1:n.157G>A | ||
| ENST00000684259.1:n.262G>A | ||
| ENST00000684479.1:n.78G>A | ||
| ENST00000684549.1:n.140G>A | ||
| ENST00000684600.1:c.225G>A | ||
| ENST00000684670.1:n.78G>A | ||
| ENST00000684746.1:n.108G>A | ||
| ENST00000261534.9:c.411G>A MANE Select | ENSP00000261534.4:p.Glu137= | |
| ENST00000261534.8:c.411G>A | ENSP00000261534.4:p.Glu137= | |
| ENST00000452340.7:n.434G>A | ||
| ENST00000553863.5:n.102+38G>A | ||
| ENST00000554948.1:c.138G>A | ENSP00000452060.1:p.Glu46= | |
| ENST00000555675.5:n.127G>A | ||
| ENST00000555788.5:n.245G>A | ||
| ENST00000556326.5:c.*77G>A | ENSP00000450630.1:n.*77G>A | |
| ENST00000556880.5:n.344G>A | ||
| ENST00000557525.1:n.501G>A | ||
| NM_013382.5:c.411G>A , LRG_844t1:c.411G>A | NP_037514.2:p.Glu137= | |
| XM_011536675.1:c.411G>A | XP_011534977.1:p.Glu137= | |
| XM_011536676.1:c.78G>A | XP_011534978.1:p.Glu26= | |
| XM_011536677.1:c.411G>A | XP_011534979.1:p.Glu137= | |
| XM_011536678.1:c.411G>A | XP_011534980.1:p.Glu137= | |
| XM_011536680.1:c.411G>A | XP_011534982.1:p.Glu137= | |
| XR_943416.1:n.614G>A | ||
| XM_011536675.2:c.411G>A | XP_011534977.1:p.Glu137= | |
| XM_011536676.2:c.78G>A | XP_011534978.1:p.Glu26= | |
| XM_011536677.3:c.411G>A | XP_011534979.1:p.Glu137= | |
| XR_001750279.1:n.611G>A | ||
| XR_001750282.1:n.615G>A | ||
| XR_943416.3:n.612G>A | ||
| NM_013382.6:c.411G>A | NP_037514.2:p.Glu137= | |
| NM_013382.7:c.411G>A MANE Select | NP_037514.2:p.Glu137= |