Linked Data
ClinVar Variation Id:
393153
dbSNP Id:
rs374097903
ExAC:
21:47572892 A / G
gnomAD v2:
21-47572892-A-G
gnomAD v3:
21-46152978-A-G
gnomAD v4:
21-46152978-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46152978A>G , CM000683.2:g.46152978A>G | GRCh38 |
| NC_000021.8:g.47572892A>G , CM000683.1:g.47572892A>G | GRCh37 |
| NC_000021.7:g.46397320A>G | NCBI36 |
| NG_016191.1:g.7590T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397746.8:c.296T>C MANE Select | ENSP00000380854.3:p.Val99Ala | |
| ENST00000291670.9:c.296T>C | ENSP00000291670.5:p.Val99Ala | |
| ENST00000397743.1:c.296T>C | ENSP00000380851.1:p.Val99Ala | |
| ENST00000397746.7:c.296T>C | ENSP00000380854.3:p.Val99Ala | |
| ENST00000397748.5:c.296T>C | ENSP00000380856.1:p.Val99Ala | |
| ENST00000498355.6:n.340T>C | ||
| NM_006657.2:c.296T>C | NP_006648.1:p.Val99Ala | |
| NM_206965.1:c.296T>C | NP_996848.1:p.Val99Ala | |
| XM_006723961.2:c.416T>C | XP_006724024.2:p.Val139Ala | |
| XM_006723962.2:c.416T>C | XP_006724025.2:p.Val139Ala | |
| XM_011529434.1:c.416T>C | XP_011527736.1:p.Val139Ala | |
| XM_011529435.1:c.416T>C | XP_011527737.1:p.Val139Ala | |
| XM_011529436.1:c.416T>C | XP_011527738.1:p.Val139Ala | |
| XM_011529437.1:c.416T>C | XP_011527739.1:p.Val139Ala | |
| XM_011529438.1:c.416T>C | XP_011527740.1:p.Val139Ala | |
| XM_011529439.1:c.-123T>C | XP_011527741.1:n.-123T>C | |
| XM_011529440.1:c.416T>C | XP_011527742.1:p.Val139Ala | |
| XR_937433.1:n.599T>C | ||
| NM_001320412.1:c.296T>C | NP_001307341.1:p.Val99Ala | |
| XM_006723961.4:c.416T>C | XP_006724024.2:p.Val139Ala | |
| XM_006723962.4:c.416T>C | XP_006724025.2:p.Val139Ala | |
| XM_011529434.3:c.416T>C | XP_011527736.1:p.Val139Ala | |
| XM_011529435.3:c.416T>C | XP_011527737.1:p.Val139Ala | |
| XM_011529436.3:c.416T>C | XP_011527738.1:p.Val139Ala | |
| XM_011529437.3:c.416T>C | XP_011527739.1:p.Val139Ala | |
| XM_011529439.2:c.-123T>C | XP_011527741.1:n.-123T>C | |
| XM_011529440.3:c.416T>C | XP_011527742.1:p.Val139Ala | |
| XR_937433.3:n.633T>C | ||
| NM_206965.2:c.296T>C MANE Select | NP_996848.1:p.Val99Ala | |
| NM_001320412.2:c.296T>C | NP_001307341.1:p.Val99Ala | |
| NM_006657.3:c.296T>C | NP_006648.1:p.Val99Ala |