Linked Data
ClinVar Variation Id:
12246
ClinVar RCV Id:
RCV000013033
RCV000120506
RCV000115856
RCV000148456
RCV000587650
RCV001030616
RCV003328157
RCV003952353
dbSNP Id:
rs35572355
ExAC:
16:68867247 G / A
gnomAD v2:
16-68867247-G-A
gnomAD v3:
16-68833344-G-A
gnomAD v4:
16-68833344-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68833344G>A , CM000678.2:g.68833344G>A | GRCh38 |
| NC_000016.9:g.68867247G>A , CM000678.1:g.68867247G>A | GRCh37 |
| NC_000016.8:g.67424748G>A | NCBI36 |
| NG_008021.1:g.101053G>A , LRG_301:g.101053G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2494G>A MANE Select | ENSP00000261769.4:p.Val832Met | |
| ENST00000261769.9:c.2494G>A | ENSP00000261769.4:p.Val832Met | |
| ENST00000422392.6:c.2311G>A | ENSP00000414946.2:p.Val771Met | |
| ENST00000562118.1:n.712G>A | ||
| ENST00000562836.5:n.2565G>A | ||
| ENST00000566510.5:c.*1160G>A | ENSP00000458139.1:n.*1160G>A | |
| ENST00000566612.5:c.*734G>A | ENSP00000454782.1:n.*734G>A | |
| ENST00000611625.4:c.2557G>A | ENSP00000481063.1:p.Val853Met | |
| ENST00000612417.4:c.1854-847G>A | ENSP00000478360.1:n.1854-847G>A | |
| ENST00000621016.4:c.1866-859G>A | ENSP00000480664.1:n.1866-859G>A | |
| NM_004360.3:c.2494G>A , LRG_301t1:c.2494G>A | NP_004351.1:p.Val832Met | |
| XM_011523488.1:c.1759G>A | XP_011521790.1:p.Val587Met | |
| XM_011523489.1:c.1759G>A | XP_011521791.1:p.Val587Met | |
| NM_001317184.1:c.2311G>A | NP_001304113.1:p.Val771Met | |
| NM_001317185.1:c.946G>A | NP_001304114.1:p.Val316Met | |
| NM_001317186.1:c.529G>A | NP_001304115.1:p.Val177Met | |
| NM_004360.4:c.2494G>A | NP_004351.1:p.Val832Met | |
| NM_004360.5:c.2494G>A MANE Select | NP_004351.1:p.Val832Met | |
| NM_001317184.2:c.2311G>A | NP_001304113.1:p.Val771Met | |
| NM_001317185.2:c.946G>A | NP_001304114.1:p.Val316Met | |
| NM_001317186.2:c.529G>A | NP_001304115.1:p.Val177Met |