Linked Data
ClinVar Variation Id:
2918047
ClinVar RCV Id:
RCV003761121
dbSNP Id:
rs200780672
ExAC:
16:3778672 C / A
gnomAD v2:
16-3778672-C-A
gnomAD v3:
16-3728671-C-A
gnomAD v4:
16-3728671-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728671C>A , CM000678.2:g.3728671C>A | GRCh38 |
| NC_000016.9:g.3778672C>A , CM000678.1:g.3778672C>A | GRCh37 |
| NC_000016.8:g.3718673C>A | NCBI36 |
| NG_009873.1:g.156450G>T | |
| NG_009873.2:g.157043G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6376G>T MANE Select | ENSP00000262367.5:p.Gly2126Cys | |
| ENST00000262367.9:c.6376G>T | ENSP00000262367.5:p.Gly2126Cys | |
| ENST00000382070.7:c.6262G>T | ENSP00000371502.3:p.Gly2088Cys | |
| NM_001079846.1:c.6262G>T | NP_001073315.1:p.Gly2088Cys | |
| NM_004380.2:c.6376G>T | NP_004371.2:p.Gly2126Cys | |
| XM_005255124.3:c.6331G>T | XP_005255181.1:p.Gly2111Cys | |
| XM_005255125.3:c.5959G>T | XP_005255182.1:p.Gly1987Cys | |
| XM_006720848.2:c.6115G>T | XP_006720911.1:p.Gly2039Cys | |
| XM_011522380.1:c.6322G>T | XP_011520682.1:p.Gly2108Cys | |
| XM_011522381.1:c.5623G>T | XP_011520683.1:p.Gly1875Cys | |
| XM_005255124.4:c.6331G>T | XP_005255181.1:p.Gly2111Cys | |
| XM_005255125.4:c.5959G>T | XP_005255182.1:p.Gly1987Cys | |
| XM_006720848.3:c.6115G>T | XP_006720911.1:p.Gly2039Cys | |
| XM_011522381.2:c.5623G>T | XP_011520683.1:p.Gly1875Cys | |
| XM_017022944.1:c.6370G>T | XP_016878433.1:p.Gly2124Cys | |
| NM_004380.3:c.6376G>T MANE Select | NP_004371.2:p.Gly2126Cys |