Linked Data
ClinVar Variation Id:
2087420
ClinVar RCV Id:
RCV003000023
MyVariant Identifiers:
chr8:g.12943419G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.13085910G>A , CM000670.2:g.13085910G>A | GRCh38 |
| NC_000008.10:g.12943419G>A , CM000670.1:g.12943419G>A | GRCh37 |
| NC_000008.9:g.12987790G>A | NCBI36 |
| NG_015998.1:g.434011C>T | |
| NG_015998.2:g.523696C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276297.9:c.4488C>T MANE Select | ENSP00000276297.4:p.Tyr1496= | |
| ENST00000276297.8:c.4488C>T | ENSP00000276297.4:p.Tyr1496= | |
| ENST00000358919.6:c.3177C>T | ENSP00000351797.2:p.Tyr1059= | |
| ENST00000510318.5:n.1673C>T | ||
| ENST00000512044.6:c.3279C>T | ENSP00000422595.2:p.Tyr1093= | |
| ENST00000520226.5:c.2955C>T | ENSP00000428028.1:p.Tyr985= | |
| NM_001164271.1:c.2955C>T | NP_001157743.1:p.Tyr985= | |
| NM_001316668.1:c.3279C>T | NP_001303597.1:p.Tyr1093= | |
| NM_006094.4:c.3177C>T | NP_006085.2:p.Tyr1059= | |
| NM_182643.2:c.4488C>T | NP_872584.2:p.Tyr1496= | |
| XM_005273374.1:c.4488C>T | XP_005273431.1:p.Tyr1496= | |
| NM_001348081.1:c.4488C>T | NP_001335010.1:p.Tyr1496= | |
| NM_001348082.1:c.2955C>T | NP_001335011.1:p.Tyr985= | |
| NM_001348083.1:c.2955C>T | NP_001335012.1:p.Tyr985= | |
| NM_001348084.1:c.2955C>T | NP_001335013.1:p.Tyr985= | |
| NM_182643.3:c.4488C>T MANE Select | NP_872584.2:p.Tyr1496= | |
| NM_001316668.2:c.3279C>T | NP_001303597.1:p.Tyr1093= | |
| NM_001348081.2:c.4488C>T | NP_001335010.1:p.Tyr1496= | |
| NM_001348082.2:c.2955C>T | NP_001335011.1:p.Tyr985= | |
| NM_001348084.2:c.2955C>T | NP_001335013.1:p.Tyr985= | |
| NM_006094.5:c.3177C>T | NP_006085.2:p.Tyr1059= | |
| NM_001164271.2:c.2955C>T | NP_001157743.1:p.Tyr985= |