Linked Data
ClinVar Variation Id:
1148895
ClinVar RCV Id:
RCV001488931
dbSNP Id:
rs753619991
MyVariant Identifiers:
chr11:g.2610047G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2588817G>A , CM000673.2:g.2588817G>A | GRCh38 |
| NC_000011.9:g.2610047G>A , CM000673.1:g.2610047G>A | GRCh37 |
| NC_000011.8:g.2566623G>A | NCBI36 |
| NG_008935.1:g.148827G>A , LRG_287:g.148827G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.999G>A | ENSP00000434560.2:p.Arg333= | |
| ENST00000646564.2:c.816G>A | ENSP00000495806.2:p.Arg272= | |
| ENST00000155840.12:c.1356G>A MANE Select | ENSP00000155840.2:p.Arg452= | |
| ENST00000335475.6:c.975G>A | ENSP00000334497.5:p.Arg325= | |
| ENST00000646564.1:c.462G>A | ENSP00000495806.1:p.Arg154= | |
| ENST00000155840.9:c.1356G>A | ENSP00000155840.2:p.Arg452= | |
| ENST00000335475.5:c.975G>A | ENSP00000334497.5:p.Arg325= | |
| NM_000218.2:c.1356G>A , LRG_287t1:c.1356G>A | NP_000209.2:p.Arg452= | |
| NM_181798.1:c.975G>A , LRG_287t2:c.975G>A | NP_861463.1:p.Arg325= | |
| NM_000218.3:c.1356G>A MANE Select | NP_000209.2:p.Arg452= |