Linked Data
ClinVar Variation Id:
1977096
ClinVar RCV Id:
RCV002750602
MyVariant Identifiers:
chr3:g.48606226C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48568793C>T , CM000665.2:g.48568793C>T | GRCh38 |
| NC_000003.11:g.48606226C>T , CM000665.1:g.48606226C>T | GRCh37 |
| NC_000003.10:g.48581230C>T | NCBI36 |
| NG_007065.1:g.31460G>A , LRG_286:g.31460G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.7749G>A MANE Select | ENSP00000506558.1:p.Leu2583= | |
| ENST00000328333.12:c.7749G>A | ENSP00000332371.8:p.Leu2583= | |
| ENST00000459756.5:n.572G>A | ||
| ENST00000467985.1:n.595G>A | ||
| ENST00000487017.5:n.4388G>A | ||
| NM_000094.3:c.7749G>A , LRG_286t1:c.7749G>A | NP_000085.1:p.Leu2583= | |
| XM_011533336.1:c.7776G>A | XP_011531638.1:p.Leu2592= | |
| XM_011533337.1:c.7749G>A | XP_011531639.1:p.Leu2583= | |
| XM_011533338.1:c.7716G>A | XP_011531640.1:p.Leu2572= | |
| XM_011533339.1:c.7776G>A | XP_011531641.1:p.Leu2592= | |
| XR_940369.1:n.7812G>A | ||
| XR_940370.1:n.7812G>A | ||
| XR_940371.1:n.7812G>A | ||
| XR_940372.1:n.7786G>A | ||
| XM_017005688.1:c.7689G>A | XP_016861177.1:p.Leu2563= | |
| XM_017005689.1:c.7749G>A | XP_016861178.1:p.Leu2583= | |
| XR_001740003.1:n.7785G>A | ||
| XR_001740004.1:n.7785G>A | ||
| XR_001740005.1:n.7785G>A | ||
| XR_001740006.1:n.7759G>A | ||
| NM_000094.4:c.7749G>A MANE Select | NP_000085.1:p.Leu2583= |