Linked Data
ClinVar Variation Id:
2755051
ClinVar RCV Id:
RCV003564159
MyVariant Identifiers:
chr15:g.28096613C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27851467C>T , CM000677.2:g.27851467C>T | GRCh38 |
| NC_000015.9:g.28096613C>T , CM000677.1:g.28096613C>T | GRCh37 |
| NC_000015.8:g.25770208C>T | NCBI36 |
| NG_009846.1:g.252846G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354638.8:c.2253G>A MANE Select | ENSP00000346659.3:p.Val751= | |
| ENST00000353809.9:c.2181G>A | ENSP00000261276.8:p.Val727= | |
| ENST00000354638.7:c.2253G>A | ENSP00000346659.3:p.Val751= | |
| NM_000275.2:c.2253G>A | NP_000266.2:p.Val751= | |
| NM_001300984.1:c.2181G>A | NP_001287913.1:p.Val727= | |
| XM_011521639.1:c.2319G>A | XP_011519941.1:p.Val773= | |
| XM_011521640.1:c.2295G>A | XP_011519942.1:p.Val765= | |
| XM_011521641.1:c.2277G>A | XP_011519943.1:p.Val759= | |
| XM_011521642.1:c.2247G>A | XP_011519944.1:p.Val749= | |
| XM_011521643.1:c.2205G>A | XP_011519945.1:p.Val735= | |
| XM_011521644.1:c.2181G>A | XP_011519946.1:p.Val727= | |
| XM_011521645.1:c.2112G>A | XP_011519947.1:p.Val704= | |
| XM_011521640.2:c.2295G>A | XP_011519942.1:p.Val765= | |
| XM_017022255.1:c.2319G>A | XP_016877744.1:p.Val773= | |
| XM_017022256.1:c.2277G>A | XP_016877745.1:p.Val759= | |
| XM_017022257.1:c.2247G>A | XP_016877746.1:p.Val749= | |
| XM_017022258.1:c.2277G>A | XP_016877747.1:p.Val759= | |
| XM_017022259.1:c.2205G>A | XP_016877748.1:p.Val735= | |
| XM_017022260.1:c.2181G>A | XP_016877749.1:p.Val727= | |
| XM_017022261.1:c.2124G>A | XP_016877750.1:p.Val708= | |
| XM_017022262.1:c.2268+19687G>A | XP_016877751.1:n.2268+19687G>A | |
| XM_017022263.1:c.2112G>A | XP_016877752.1:p.Val704= | |
| XM_017022264.1:c.2112G>A | XP_016877753.1:p.Val704= | |
| NM_000275.3:c.2253G>A MANE Select | NP_000266.2:p.Val751= | |
| NM_001300984.2:c.2181G>A | NP_001287913.1:p.Val727= |