Linked Data
dbSNP Id:
rs2053902322
gnomAD v4:
15-98707842-C-G
MyVariant Identifiers:
chr15:g.99251071C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.98707842C>G , CM000677.2:g.98707842C>G | GRCh38 |
| NC_000015.9:g.99251071C>G , CM000677.1:g.99251071C>G | GRCh37 |
| NC_000015.8:g.97068594C>G | NCBI36 |
| NG_009492.1:g.63311C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649865.1:c.375C>G | ENSP00000496919.1:p.Leu125= | |
| ENST00000650285.1:c.375C>G MANE Select | ENSP00000497069.1:p.Leu125= | |
| ENST00000268035.10:c.375C>G | ENSP00000268035.6:p.Leu125= | |
| ENST00000558355.1:c.12C>G | ENSP00000453630.1:p.Leu4= | |
| ENST00000558762.5:c.375C>G | ENSP00000453007.1:p.Leu125= | |
| ENST00000559925.5:n.375C>G | ||
| NM_000875.4:c.375C>G | NP_000866.1:p.Leu125= | |
| NM_001291858.1:c.375C>G | NP_001278787.1:p.Leu125= | |
| XM_011521513.1:c.375C>G | XP_011519815.1:p.Leu125= | |
| XM_011521514.1:c.375C>G | XP_011519816.1:p.Leu125= | |
| XM_011521515.1:c.375C>G | XP_011519817.1:p.Leu125= | |
| XM_017022136.1:c.450C>G | XP_016877625.1:p.Leu150= | |
| XM_017022137.1:c.450C>G | XP_016877626.1:p.Leu150= | |
| XM_017022138.1:c.450C>G | XP_016877627.1:p.Leu150= | |
| XM_017022139.1:c.12C>G | XP_016877628.1:p.Leu4= | |
| NM_000875.5:c.375C>G MANE Select | NP_000866.1:p.Leu125= | |
| NM_001291858.2:c.375C>G | NP_001278787.1:p.Leu125= |