Linked Data
ClinVar Variation Id:
319156
dbSNP Id:
rs140254478
ExAC:
16:3639727 G / A
gnomAD v2:
16-3639727-G-A
gnomAD v3:
16-3589726-G-A
gnomAD v4:
16-3589726-G-A
COSMIC:
COSM2919688
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3589726G>A , CM000678.2:g.3589726G>A | GRCh38 |
| NC_000016.9:g.3639727G>A , CM000678.1:g.3639727G>A | GRCh37 |
| NC_000016.8:g.3579728G>A | NCBI36 |
| NG_028123.1:g.26859C>T , LRG_503:g.26859C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294008.4:c.3912C>T MANE Select | ENSP00000294008.3:p.Val1304= | |
| ENST00000294008.3:c.3912C>T | ENSP00000294008.3:p.Val1304= | |
| NM_032444.2:c.3912C>T , LRG_503t1:c.3912C>T | NP_115820.2:p.Val1304= | |
| XM_011522715.1:c.3912C>T | XP_011521017.1:p.Val1304= | |
| NM_032444.3:c.3912C>T | NP_115820.2:p.Val1304= | |
| XM_011522715.3:c.3912C>T | XP_011521017.1:p.Val1304= | |
| XM_017023775.2:c.3090C>T | XP_016879264.1:p.Val1030= | |
| XM_024450471.1:c.3912C>T | XP_024306239.1:p.Val1304= | |
| NM_032444.4:c.3912C>T MANE Select | NP_115820.2:p.Val1304= |