Linked Data
ClinVar Variation Id:
920018
dbSNP Id:
rs1848613980
MyVariant Identifiers:
chr11:g.2608919G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2587689G>A , CM000673.2:g.2587689G>A | GRCh38 |
| NC_000011.9:g.2608919G>A , CM000673.1:g.2608919G>A | GRCh37 |
| NC_000011.8:g.2565495G>A | NCBI36 |
| NG_008935.1:g.147699G>A , LRG_287:g.147699G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.891G>A | ENSP00000434560.2:p.Val297= | |
| ENST00000646564.2:c.708G>A | ENSP00000495806.2:p.Val236= | |
| ENST00000155840.12:c.1248G>A MANE Select | ENSP00000155840.2:p.Val416= | |
| ENST00000335475.6:c.867G>A | ENSP00000334497.5:p.Val289= | |
| ENST00000646564.1:c.354G>A | ENSP00000495806.1:p.Val118= | |
| ENST00000155840.9:c.1248G>A | ENSP00000155840.2:p.Val416= | |
| ENST00000335475.5:c.867G>A | ENSP00000334497.5:p.Val289= | |
| NM_000218.2:c.1248G>A , LRG_287t1:c.1248G>A | NP_000209.2:p.Val416= | |
| NM_181798.1:c.867G>A , LRG_287t2:c.867G>A | NP_861463.1:p.Val289= | |
| NM_000218.3:c.1248G>A MANE Select | NP_000209.2:p.Val416= |