Linked Data
ClinVar Variation Id:
2183367
ClinVar RCV Id:
RCV002615478
MyVariant Identifiers:
chr15:g.91333956T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90790726T>A , CM000677.2:g.90790726T>A | GRCh38 |
| NC_000015.9:g.91333956T>A , CM000677.1:g.91333956T>A | GRCh37 |
| NC_000015.8:g.89134960T>A | NCBI36 |
| NG_007272.1:g.78355T>A , LRG_20:g.78355T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.2901T>A MANE Select | ENSP00000347232.3:p.Pro967= | |
| ENST00000560559.2:n.1474T>A | ||
| ENST00000648453.1:c.2901T>A | ENSP00000497646.1:p.Pro967= | |
| ENST00000680772.1:c.2901T>A | ENSP00000506117.1:p.Pro967= | |
| ENST00000681142.1:c.2901T>A | ENSP00000506682.1:p.Pro967= | |
| ENST00000355112.7:c.2901T>A | ENSP00000347232.3:p.Pro967= | |
| ENST00000559724.5:c.*1825T>A | ENSP00000453359.1:n.*1825T>A | |
| ENST00000560136.5:n.927T>A | ||
| ENST00000560509.5:c.2901T>A | ENSP00000454158.1:p.Pro967= | |
| ENST00000560559.1:n.438T>A | ||
| NM_000057.3:c.2901T>A | NP_000048.1:p.Pro967= | |
| NM_001287246.1:c.2901T>A | NP_001274175.1:p.Pro967= | |
| NM_001287247.1:c.2901T>A | NP_001274176.1:p.Pro967= | |
| NM_001287248.1:c.1776T>A | NP_001274177.1:p.Pro592= | |
| XM_006720632.2:c.939T>A | XP_006720695.1:p.Pro313= | |
| XM_011521881.1:c.1587T>A | XP_011520183.1:p.Pro529= | |
| XM_011521881.2:c.1587T>A | XP_011520183.1:p.Pro529= | |
| NM_000057.4:c.2901T>A MANE Select | NP_000048.1:p.Pro967= | |
| NM_001287246.2:c.2901T>A | NP_001274175.1:p.Pro967= | |
| NM_001287247.2:c.2901T>A | NP_001274176.1:p.Pro967= | |
| NM_001287248.2:c.1776T>A | NP_001274177.1:p.Pro592= |