Linked Data
ClinVar Variation Id:
388321
dbSNP Id:
rs371608031
ExAC:
4:15565098 G / A
gnomAD v2:
4-15565098-G-A
gnomAD v3:
4-15563475-G-A
gnomAD v4:
4-15563475-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15563475G>A , CM000666.2:g.15563475G>A | GRCh38 |
| NC_000004.11:g.15565098G>A , CM000666.1:g.15565098G>A | GRCh37 |
| NC_000004.10:g.15174196G>A | NCBI36 |
| NG_013035.1:g.98610G>A , LRG_697:g.98610G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.3150G>A | ENSP00000374303.8:p.Val1050= | |
| ENST00000424120.6:c.3135G>A MANE Select | ENSP00000403465.1:p.Val1045= | |
| ENST00000503292.6:c.3135G>A | ENSP00000421809.1:p.Val1045= | |
| ENST00000506643.5:c.2988G>A | ENSP00000422931.2:p.Val996= | |
| ENST00000634028.2:c.2988G>A | ENSP00000488669.2:p.Val996= | |
| ENST00000650860.2:c.*141G>A | ENSP00000498775.1:n.*141G>A | |
| ENST00000674945.1:c.2988G>A | ENSP00000502333.1:p.Val996= | |
| ENST00000675619.1:n.3946G>A | ||
| ENST00000675768.1:n.355G>A | ||
| ENST00000676337.1:c.*141G>A | ENSP00000501728.1:n.*141G>A | |
| ENST00000680586.1:n.3794G>A | ||
| ENST00000389652.9:c.2612G>A | ||
| ENST00000424120.5:c.3135G>A | ENSP00000403465.1:p.Val1045= | |
| ENST00000503292.5:c.3135G>A | ENSP00000421809.1:p.Val1045= | |
| ENST00000506643.4:c.1463G>A | ||
| ENST00000634028.1:c.3118G>A | ENSP00000488669.1:n.3118G>A | |
| NM_001080522.2:c.3135G>A , LRG_697t1:c.3135G>A | NP_001073991.2:p.Val1045= | |
| XM_005248177.1:c.3135G>A | XP_005248234.1:p.Val1045= | |
| XM_011513869.1:c.3135G>A | XP_011512171.1:p.Val1045= | |
| XM_011513870.1:c.3135G>A | XP_011512172.1:p.Val1045= | |
| XM_011513871.1:c.2988G>A | XP_011512173.1:p.Val996= | |
| XM_017008482.1:c.2988G>A | XP_016863971.1:p.Val996= | |
| XR_001741296.1:n.3380G>A | ||
| NM_001378615.1:c.3135G>A MANE Select | NP_001365544.1:p.Val1045= | |
| NM_001378617.1:c.2988G>A | NP_001365546.1:p.Val996= |