Linked Data
ClinVar Variation Id:
200813
ClinVar RCV Id:
RCV000182074
RCV000988474
RCV001048069
RCV000767090
RCV001842868
RCV003227700
RCV002399648
dbSNP Id:
rs750409379
ExAC:
11:2798256 G / A
gnomAD v2:
11-2798256-G-A
gnomAD v3:
11-2777026-G-A
gnomAD v4:
11-2777026-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2777026G>A , CM000673.2:g.2777026G>A | GRCh38 |
| NC_000011.9:g.2798256G>A , CM000673.1:g.2798256G>A | GRCh37 |
| NC_000011.8:g.2754832G>A | NCBI36 |
| NG_008935.1:g.337036G>A , LRG_287:g.337036G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1369G>A | ENSP00000434560.2:p.Val457Ile | |
| ENST00000646564.2:c.1186G>A | ENSP00000495806.2:p.Val396Ile | |
| ENST00000155840.12:c.1726G>A MANE Select | ENSP00000155840.2:p.Val576Ile | |
| ENST00000335475.6:c.1345G>A | ENSP00000334497.5:p.Val449Ile | |
| ENST00000646564.1:c.832G>A | ENSP00000495806.1:p.Val278Ile | |
| ENST00000155840.9:c.1726G>A | ENSP00000155840.2:p.Val576Ile | |
| ENST00000335475.5:c.1345G>A | ENSP00000334497.5:p.Val449Ile | |
| NM_000218.2:c.1726G>A , LRG_287t1:c.1726G>A | NP_000209.2:p.Val576Ile | |
| NM_181798.1:c.1345G>A , LRG_287t2:c.1345G>A | NP_861463.1:p.Val449Ile | |
| NM_000218.3:c.1726G>A MANE Select | NP_000209.2:p.Val576Ile |