Linked Data
ClinVar Variation Id:
390675
ClinVar RCV Id:
RCV000435464
dbSNP Id:
rs1057523857
gnomAD v4:
11-68936824-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936824G>A , CM000673.2:g.68936824G>A | GRCh38 |
| NC_000011.9:g.68704292G>A , CM000673.1:g.68704292G>A | GRCh37 |
| NC_000011.8:g.68460868G>A | NCBI36 |
| NG_007976.1:g.37974G>A , LRG_250:g.37974G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2344G>A MANE Select | ENSP00000255078.4:p.Val782Met | |
| ENST00000674675.1:c.587+1G>A | ||
| ENST00000674878.1:c.547+41G>A | ||
| ENST00000674955.1:c.*1061G>A | ENSP00000502463.1:n.*1061G>A | |
| ENST00000675118.1:c.1832G>A | ||
| ENST00000675389.1:n.619G>A | ||
| ENST00000675615.1:c.2344G>A | ENSP00000502413.1:p.Val782Met | |
| ENST00000675648.1:n.1719G>A | ||
| ENST00000675916.1:c.588G>A | ||
| ENST00000676173.1:n.3089G>A | ||
| ENST00000676182.1:c.775G>A | ||
| ENST00000676228.1:c.*1667G>A | ENSP00000502375.1:n.*1667G>A | |
| ENST00000255078.7:c.2344G>A | ENSP00000255078.3:p.Val782Met | |
| ENST00000539064.5:n.2103G>A | ||
| ENST00000543739.5:n.1337G>A | ||
| NM_002180.2:c.2344G>A , LRG_250t1:c.2344G>A | NP_002171.2:p.Val782Met | |
| XM_005273974.2:c.1333G>A | XP_005274031.1:p.Val445Met | |
| XM_005273975.2:c.1216G>A | XP_005274032.1:p.Val406Met | |
| XM_011544994.1:c.1111G>A | XP_011543296.1:p.Val371Met | |
| XR_949903.1:n.2446G>A | ||
| XM_005273975.3:c.1216G>A | XP_005274032.1:p.Val406Met | |
| XM_017017669.2:c.1333G>A | XP_016873158.1:p.Val445Met | |
| XM_017017670.2:c.1333G>A | XP_016873159.1:p.Val445Met | |
| XR_949903.3:n.2442G>A | ||
| NM_002180.3:c.2344G>A MANE Select | NP_002171.2:p.Val782Met |