Linked Data
ClinVar Variation Id:
1568379
ClinVar RCV Id:
RCV002217001
dbSNP Id:
rs2140967240
MyVariant Identifiers:
chr15:g.31362387C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.31070184C>A , CM000677.2:g.31070184C>A | GRCh38 |
| NC_000015.9:g.31362387C>A , CM000677.1:g.31362387C>A | GRCh37 |
| NC_000015.8:g.29149679C>A | NCBI36 |
| NG_016453.1:g.36538G>T | |
| NG_016453.2:g.96090G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711434.1:c.60G>T | ENSP00000518752.1:p.Leu20= | |
| ENST00000397795.7:c.60G>T | ENSP00000380897.2:p.Leu20= | |
| ENST00000558445.6:c.177G>T | ENSP00000452946.2:p.Leu59= | |
| ENST00000559177.6:c.177G>T | ENSP00000453477.2:p.Leu59= | |
| ENST00000559179.2:c.60G>T | ENSP00000453851.1:p.Leu20= | |
| ENST00000256552.11:c.126G>T MANE Select | ENSP00000256552.7:p.Leu42= | |
| ENST00000256552.10:c.126G>T | ENSP00000256552.6:p.Leu42= | |
| ENST00000397795.6:c.60G>T | ENSP00000380897.2:p.Leu20= | |
| ENST00000542188.5:c.177G>T | ENSP00000437849.1:p.Leu59= | |
| ENST00000558445.5:c.60G>T | ENSP00000452946.1:p.Leu20= | |
| ENST00000559177.5:c.60G>T | ENSP00000453477.1:p.Leu20= | |
| ENST00000559179.1:c.60G>T | ENSP00000453851.1:p.Leu20= | |
| ENST00000560658.5:c.60G>T | ENSP00000454077.1:p.Leu20= | |
| NM_001252020.1:c.177G>T | NP_001238949.1:p.Leu59= | |
| NM_001252024.1:c.126G>T | NP_001238953.1:p.Leu42= | |
| NM_001252030.1:c.60G>T | NP_001238959.1:p.Leu20= | |
| NM_002420.5:c.60G>T | NP_002411.3:p.Leu20= | |
| NM_001252024.2:c.126G>T MANE Select | NP_001238953.1:p.Leu42= | |
| NM_001252030.2:c.60G>T | NP_001238959.1:p.Leu20= | |
| NM_002420.6:c.60G>T | NP_002411.3:p.Leu20= | |
| NM_001252020.2:c.177G>T | NP_001238949.1:p.Leu59= |