Linked Data
ClinVar Variation Id:
135244
ClinVar RCV Id:
RCV000129038
RCV000122058
RCV000195767
RCV002310678
RCV000586799
RCV001450076
RCV003315778
RCV003925209
dbSNP Id:
rs7238500
ExAC:
18:48584802 A / G
gnomAD v2:
18-48584802-A-G
gnomAD v3:
18-51058432-A-G
gnomAD v4:
18-51058432-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51058432A>G , CM000680.2:g.51058432A>G | GRCh38 |
| NC_000018.9:g.48584802A>G , CM000680.1:g.48584802A>G | GRCh37 |
| NC_000018.8:g.46838800A>G | NCBI36 |
| NG_013013.2:g.95393A>G , LRG_318:g.95393A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.880A>G | ENSP00000465878.2:p.Met294Val | |
| ENST00000589076.6:c.880A>G | ENSP00000466934.2:p.Met294Val | |
| ENST00000589941.2:c.880A>G | ENSP00000465874.2:p.Met294Val | |
| ENST00000590061.2:c.880A>G | ENSP00000464772.2:p.Met294Val | |
| ENST00000593223.2:c.880A>G | ENSP00000466118.2:p.Met294Val | |
| ENST00000611848.2:c.880A>G | ENSP00000478613.2:p.Met294Val | |
| ENST00000684953.1:n.2252A>G | ||
| ENST00000685232.1:n.988A>G | ||
| ENST00000688307.1:n.156-1434A>G | ||
| ENST00000688574.1:n.988A>G | ||
| ENST00000688903.1:n.1094A>G | ||
| ENST00000690892.1:n.988A>G | ||
| ENST00000342988.8:c.880A>G MANE Select | ENSP00000341551.3:p.Met294Val | |
| ENST00000342988.7:c.880A>G | ENSP00000341551.3:p.Met294Val | |
| ENST00000398417.6:c.880A>G | ENSP00000381452.1:p.Met294Val | |
| ENST00000588745.5:c.667+3439A>G | ENSP00000464901.1:n.667+3439A>G | |
| ENST00000591126.5:n.2881A>G | ||
| ENST00000592186.5:c.880A>G | ENSP00000468611.1:p.Met294Val | |
| ENST00000611848.1:c.80A>G | ||
| NM_005359.5:c.880A>G , LRG_318t1:c.880A>G | NP_005350.1:p.Met294Val | |
| NM_005359.6:c.880A>G MANE Select | NP_005350.1:p.Met294Val |