Linked Data
ClinVar Variation Id:
1627789
ClinVar RCV Id:
RCV002133000
dbSNP Id:
rs540211579
ExAC:
21:47565823 C / A
gnomAD v2:
21-47565823-C-A
gnomAD v3:
21-46145909-C-A
gnomAD v4:
21-46145909-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46145909C>A , CM000683.2:g.46145909C>A | GRCh38 |
| NC_000021.8:g.47565823C>A , CM000683.1:g.47565823C>A | GRCh37 |
| NC_000021.7:g.46390251C>A | NCBI36 |
| NG_016191.1:g.14659G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397746.8:c.1007G>T MANE Select | ENSP00000380854.3:p.Gly336Val | |
| ENST00000291670.9:c.1007G>T | ENSP00000291670.5:p.Gly336Val | |
| ENST00000397743.1:c.1007G>T | ENSP00000380851.1:p.Gly336Val | |
| ENST00000397746.7:c.1007G>T | ENSP00000380854.3:p.Gly336Val | |
| ENST00000397748.5:c.1007G>T | ENSP00000380856.1:p.Gly336Val | |
| ENST00000469240.1:n.378G>T | ||
| ENST00000480950.1:n.237G>T | ||
| ENST00000498355.6:n.1076G>T | ||
| NM_006657.2:c.1007G>T | NP_006648.1:p.Gly336Val | |
| NM_206965.1:c.1007G>T | NP_996848.1:p.Gly336Val | |
| XM_006723961.2:c.1127G>T | XP_006724024.2:p.Gly376Val | |
| XM_006723962.2:c.1127G>T | XP_006724025.2:p.Gly376Val | |
| XM_011529434.1:c.1127G>T | XP_011527736.1:p.Gly376Val | |
| XM_011529435.1:c.1127G>T | XP_011527737.1:p.Gly376Val | |
| XM_011529436.1:c.1127G>T | XP_011527738.1:p.Gly376Val | |
| XM_011529437.1:c.1127G>T | XP_011527739.1:p.Gly376Val | |
| XM_011529438.1:c.1127G>T | XP_011527740.1:p.Gly376Val | |
| XM_011529439.1:c.614G>T | XP_011527741.1:p.Gly205Val | |
| XM_011529440.1:c.1127G>T | XP_011527742.1:p.Gly376Val | |
| XR_937433.1:n.1310G>T | ||
| NM_001320412.1:c.1007G>T | NP_001307341.1:p.Gly336Val | |
| XM_006723961.4:c.1127G>T | XP_006724024.2:p.Gly376Val | |
| XM_006723962.4:c.1127G>T | XP_006724025.2:p.Gly376Val | |
| XM_011529434.3:c.1127G>T | XP_011527736.1:p.Gly376Val | |
| XM_011529435.3:c.1127G>T | XP_011527737.1:p.Gly376Val | |
| XM_011529436.3:c.1127G>T | XP_011527738.1:p.Gly376Val | |
| XM_011529437.3:c.1127G>T | XP_011527739.1:p.Gly376Val | |
| XM_011529439.2:c.614G>T | XP_011527741.1:p.Gly205Val | |
| XM_011529440.3:c.1127G>T | XP_011527742.1:p.Gly376Val | |
| XR_937433.3:n.1344G>T | ||
| NM_206965.2:c.1007G>T MANE Select | NP_996848.1:p.Gly336Val | |
| NM_001320412.2:c.1007G>T | NP_001307341.1:p.Gly336Val | |
| NM_006657.3:c.1007G>T | NP_006648.1:p.Gly336Val |