Linked Data
ClinVar Variation Id:
3006506
ClinVar RCV Id:
RCV003866657
dbSNP Id:
rs1911852129
MyVariant Identifiers:
chr17:g.6328954C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6425634C>T , CM000679.2:g.6425634C>T | GRCh38 |
| NC_000017.10:g.6328954C>T , CM000679.1:g.6328954C>T | GRCh37 |
| NC_000017.9:g.6269678C>T | NCBI36 |
| NG_008474.1:g.14566G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.981G>A MANE Select | ENSP00000370521.3:p.Leu327= | |
| ENST00000250087.9:c.792G>A | ENSP00000250087.5:p.Leu264= | |
| ENST00000381128.2:c.*853G>A | ENSP00000370520.2:n.*853G>A | |
| ENST00000381129.7:c.981G>A | ENSP00000370521.3:p.Leu327= | |
| ENST00000570466.5:c.915G>A | ENSP00000461287.1:p.Leu305= | |
| ENST00000570584.5:c.251+8285G>A | ||
| ENST00000574506.5:c.945G>A | ENSP00000458456.1:p.Leu315= | |
| ENST00000575265.5:c.*952G>A | ENSP00000459673.1:n.*952G>A | |
| ENST00000576307.5:c.801G>A | ENSP00000459522.1:p.Leu267= | |
| ENST00000576776.5:c.909G>A | ENSP00000460827.1:p.Leu303= | |
| ENST00000621374.4:c.980G>A | ENSP00000481337.1:p.Ter327= | |
| NM_001033054.2:c.792G>A | NP_001028226.1:p.Leu264= | |
| NM_001033055.2:c.801G>A | NP_001028227.1:p.Leu267= | |
| NM_001285399.2:c.945G>A | NP_001272328.1:p.Leu315= | |
| NM_001285400.2:c.915G>A | NP_001272329.1:p.Leu305= | |
| NM_001285401.2:c.909G>A | NP_001272330.1:p.Leu303= | |
| NM_001285402.1:c.864G>A | NP_001272331.1:p.Leu288= | |
| NM_014336.4:c.981G>A | NP_055151.3:p.Leu327= | |
| NM_001033054.3:c.792G>A | NP_001028226.1:p.Leu264= | |
| NM_001033055.3:c.801G>A | NP_001028227.1:p.Leu267= | |
| NM_001285399.3:c.945G>A | NP_001272328.1:p.Leu315= | |
| NM_001285400.3:c.915G>A | NP_001272329.1:p.Leu305= | |
| NM_001285401.3:c.909G>A | NP_001272330.1:p.Leu303= | |
| NM_001285402.2:c.864G>A | NP_001272331.1:p.Leu288= | |
| NM_001285403.3:c.*952G>A | NP_001272332.1:n.*952G>A | |
| NM_014336.5:c.981G>A MANE Select | NP_055151.3:p.Leu327= | |
| NM_001285403.4:c.*952G>A | NP_001272332.1:n.*952G>A |