Linked Data
ClinVar Variation Id:
3025190
ClinVar RCV Id:
RCV003886066
gnomAD v3:
15-78077409-A-G
gnomAD v4:
15-78077409-A-G
MyVariant Identifiers:
chr15:g.78369751A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78077409A>G , CM000677.2:g.78077409A>G | GRCh38 |
| NC_000015.9:g.78369751A>G , CM000677.1:g.78369751A>G | GRCh37 |
| NC_000015.8:g.76156806A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300584.8:c.244T>C MANE Select | ENSP00000300584.3:p.Leu82= | |
| ENST00000300584.7:c.244T>C | ENSP00000300584.3:p.Leu82= | |
| ENST00000409931.7:c.244T>C | ENSP00000387165.3:p.Leu82= | |
| NM_015079.5:c.244T>C | NP_055894.6:p.Leu82= | |
| NM_144572.1:c.244T>C | NP_653173.1:p.Leu82= | |
| XM_011521387.1:c.244T>C | XP_011519689.1:p.Leu82= | |
| XM_011521388.1:c.244T>C | XP_011519690.1:p.Leu82= | |
| XM_011521387.2:c.244T>C | XP_011519689.1:p.Leu82= | |
| XM_017022022.1:c.-592T>C | XP_016877511.1:n.-592T>C | |
| XR_001751162.1:n.300T>C | ||
| XR_001751163.1:n.300T>C | ||
| NM_015079.6:c.244T>C | NP_055894.6:p.Leu82= | |
| NM_001387142.1:c.244T>C | NP_001374071.1:p.Leu82= | |
| NM_001387143.1:c.244T>C | NP_001374072.1:p.Leu82= | |
| NM_001387144.1:c.244T>C | NP_001374073.1:p.Leu82= | |
| NM_144572.2:c.244T>C MANE Select | NP_653173.1:p.Leu82= |