Linked Data
ClinVar Variation Id:
66987
dbSNP Id:
rs138320978
ExAC:
21:43913159 C / A
gnomAD v2:
21-43913159-C-A
gnomAD v3:
21-42493049-C-A
gnomAD v4:
21-42493049-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42493049C>A , CM000683.2:g.42493049C>A | GRCh38 |
| NC_000021.8:g.43913159C>A , CM000683.1:g.43913159C>A | GRCh37 |
| NC_000021.7:g.42786228C>A | NCBI36 |
| NG_034257.1:g.8306G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291536.8:c.85G>T MANE Select | ENSP00000291536.3:p.Glu29Ter | |
| ENST00000291536.7:c.85G>T | ENSP00000291536.3:p.Glu29Ter | |
| ENST00000398352.3:c.55-186G>T | ENSP00000381395.3:n.55-186G>T | |
| ENST00000493019.1:n.145G>T | ||
| NM_001286506.1:c.55-186G>T | NP_001273435.1:n.55-186G>T | |
| NM_080860.3:c.85G>T | NP_543136.1:p.Glu29Ter | |
| XM_005261208.1:c.67+3071G>T | XP_005261265.1:n.67+3071G>T | |
| XM_011529786.1:c.85G>T | XP_011528088.1:p.Glu29Ter | |
| XM_005261208.2:c.67+3071G>T | XP_005261265.1:n.67+3071G>T | |
| NM_080860.4:c.85G>T MANE Select | NP_543136.1:p.Glu29Ter | |
| NM_001286506.2:c.55-186G>T | NP_001273435.1:n.55-186G>T |