Linked Data
ClinVar Variation Id:
338023
dbSNP Id:
rs778097475
ExAC:
20:2641352 C / A
gnomAD v2:
20-2641352-C-A
gnomAD v3:
20-2660706-C-A
gnomAD v4:
20-2660706-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2660706C>A , CM000682.2:g.2660706C>A | GRCh38 |
| NC_000020.10:g.2641352C>A , CM000682.1:g.2641352C>A | GRCh37 |
| NC_000020.9:g.2589352C>A | NCBI36 |
| NG_012149.1:g.8492G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380843.9:c.522G>T MANE Select | ENSP00000370223.4:p.Leu174= | |
| ENST00000380843.8:c.522G>T | ENSP00000370223.4:p.Leu174= | |
| ENST00000380851.9:c.522G>T | ENSP00000370232.5:p.Leu174= | |
| ENST00000462967.5:n.549G>T | ||
| ENST00000474315.5:c.522G>T | ENSP00000482773.1:p.Leu174= | |
| ENST00000488299.5:n.522G>T | ||
| ENST00000491065.1:n.622G>T | ||
| ENST00000613370.1:c.522G>T | ENSP00000484922.1:p.Leu174= | |
| NM_001258384.1:c.522G>T | NP_001245313.1:p.Leu174= | |
| NM_006899.3:c.522G>T | NP_008830.2:p.Leu174= | |
| NM_174855.2:c.522G>T | NP_777280.1:p.Leu174= | |
| XM_005260716.1:c.522G>T | XP_005260773.1:p.Leu174= | |
| XR_937066.1:n.550G>T | ||
| NM_001258384.2:c.522G>T | NP_001245313.1:p.Leu174= | |
| NM_001330763.1:c.522G>T | NP_001317692.1:p.Leu174= | |
| NM_006899.4:c.522G>T | NP_008830.2:p.Leu174= | |
| NM_174855.3:c.522G>T | NP_777280.1:p.Leu174= | |
| NR_136344.1:n.557G>T | ||
| XR_001754265.1:n.550G>T | ||
| XR_001754266.1:n.550G>T | ||
| XR_001754267.1:n.550G>T | ||
| NM_006899.5:c.522G>T MANE Select | NP_008830.2:p.Leu174= | |
| NM_001330763.2:c.522G>T | NP_001317692.1:p.Leu174= | |
| NM_174855.4:c.522G>T | NP_777280.1:p.Leu174= | |
| NR_136344.2:n.550G>T | ||
| NM_001258384.3:c.522G>T | NP_001245313.1:p.Leu174= |