Linked Data
ClinVar Variation Id:
2765004
ClinVar RCV Id:
RCV003578140
MyVariant Identifiers:
chr3:g.150659505G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150941718G>T , CM000665.2:g.150941718G>T | GRCh38 |
| NC_000003.11:g.150659505G>T , CM000665.1:g.150659505G>T | GRCh37 |
| NC_000003.10:g.152142195G>T | NCBI36 |
| NG_009168.1:g.36282C>A , LRG_700:g.36282C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.297C>A MANE Select | ENSP00000322280.1:p.Val99= | |
| ENST00000468836.2:c.445C>A | ENSP00000419892.2:p.Gln149Lys | |
| ENST00000644099.1:c.289C>A | ENSP00000494762.1:n.289C>A | |
| ENST00000295911.6:c.69C>A | ENSP00000295911.2:p.Val23= | |
| ENST00000327047.5:c.297C>A | ENSP00000322280.1:p.Val99= | |
| ENST00000328863.8:c.297C>A | ENSP00000329158.4:p.Val99= | |
| ENST00000468836.1:c.69C>A | ENSP00000419892.1:p.Val23= | |
| ENST00000472224.1:n.303C>A | ||
| ENST00000485607.1:c.-40C>A | ENSP00000419244.1:n.-40C>A | |
| ENST00000565169.1:c.26C>A | ||
| ENST00000569170.5:c.26C>A | ||
| NM_001195794.1:c.297C>A , LRG_700t1:c.297C>A | NP_001182723.1:p.Val99= | |
| NM_001256819.1:c.469C>A | NP_001243748.1:p.Gln157Lys | |
| NM_052995.2:c.69C>A , LRG_700t2:c.69C>A | NP_443721.1:p.Val23= | |
| NM_174878.2:c.297C>A | NP_777367.1:p.Val99= | |
| NR_046380.2:n.739C>A | ||
| XR_924167.1:n.609C>A | ||
| NM_001256819.2:c.469C>A | NP_001243748.1:p.Gln157Lys | |
| NM_174878.3:c.297C>A MANE Select | NP_777367.1:p.Val99= | |
| NR_046380.3:n.467C>A |