Linked Data
ClinVar Variation Id:
2790350
ClinVar RCV Id:
RCV003669821
MyVariant Identifiers:
chr17:g.18062597C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18159283C>T , CM000679.2:g.18159283C>T | GRCh38 |
| NC_000017.10:g.18062597C>T , CM000679.1:g.18062597C>T | GRCh37 |
| NC_000017.9:g.18003322C>T | NCBI36 |
| NG_011634.1:g.55578C>T | |
| NG_011634.2:g.55578C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642418.1:n.1503C>T | ||
| ENST00000643693.1:n.967C>T | ||
| ENST00000644795.1:c.957C>T | ENSP00000495720.1:p.Leu319= | |
| ENST00000646782.1:n.1899C>T | ||
| ENST00000647165.2:c.9165C>T MANE Select | ENSP00000495481.1:p.Leu3055= | |
| ENST00000651214.1:n.1670C>T | ||
| ENST00000205890.9:c.9165C>T | ENSP00000205890.5:p.Leu3055= | |
| ENST00000418233.7:c.957C>T | ENSP00000408800.3:p.Leu319= | |
| ENST00000433411.7:n.102C>T | ||
| ENST00000445289.6:n.316+1383C>T | ||
| ENST00000556535.5:c.27C>T | ENSP00000451782.1:p.Leu9= | |
| ENST00000557190.5:n.67C>T | ||
| ENST00000557655.5:c.27C>T | ENSP00000451925.1:p.Leu9= | |
| ENST00000578472.5:c.27C>T | ENSP00000467989.1:p.Leu9= | |
| ENST00000615845.4:c.9165C>T | ENSP00000481642.1:p.Leu3055= | |
| NM_016239.3:c.9165C>T | NP_057323.3:p.Leu3055= | |
| XM_011523921.1:c.9159C>T | XP_011522223.1:p.Leu3053= | |
| XM_017024714.2:c.9105C>T | XP_016880203.1:p.Leu3035= | |
| XM_017024715.2:c.9168C>T | XP_016880204.1:p.Leu3056= | |
| NM_016239.4:c.9165C>T MANE Select | NP_057323.3:p.Leu3055= |