Linked Data
ClinVar Variation Id:
1669188
ClinVar RCV Id:
RCV002194509
dbSNP Id:
rs555628489
ExAC:
16:3828082 G / A
gnomAD v3:
16-3778081-G-A
gnomAD v4:
16-3778081-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3778081G>A , CM000678.2:g.3778081G>A | GRCh38 |
| NC_000016.9:g.3828082G>A , CM000678.1:g.3828082G>A | GRCh37 |
| NC_000016.8:g.3768083G>A | NCBI36 |
| NG_009873.1:g.107040C>T | |
| NG_009873.2:g.107633C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.2043C>T MANE Select | ENSP00000262367.5:p.Asn681= | |
| ENST00000262367.9:c.2043C>T | ENSP00000262367.5:p.Asn681= | |
| ENST00000382070.7:c.1929C>T | ENSP00000371502.3:p.Asn643= | |
| ENST00000570939.2:c.648C>T | ENSP00000461002.2:p.Asn216= | |
| ENST00000571826.5:c.92C>T | ||
| ENST00000572134.1:c.356C>T | ||
| ENST00000634839.1:n.205C>T | ||
| NM_001079846.1:c.1929C>T | NP_001073315.1:p.Asn643= | |
| NM_004380.2:c.2043C>T | NP_004371.2:p.Asn681= | |
| XM_005255124.3:c.2043C>T | XP_005255181.1:p.Asn681= | |
| XM_005255125.3:c.2043C>T | XP_005255182.1:p.Asn681= | |
| XM_006720848.2:c.2043C>T | XP_006720911.1:p.Asn681= | |
| XM_011522380.1:c.1989C>T | XP_011520682.1:p.Asn663= | |
| XM_011522381.1:c.1290C>T | XP_011520683.1:p.Asn430= | |
| XM_011522382.1:c.2043C>T | XP_011520684.1:p.Asn681= | |
| XM_005255124.4:c.2043C>T | XP_005255181.1:p.Asn681= | |
| XM_005255125.4:c.2043C>T | XP_005255182.1:p.Asn681= | |
| XM_006720848.3:c.2043C>T | XP_006720911.1:p.Asn681= | |
| XM_011522381.2:c.1290C>T | XP_011520683.1:p.Asn430= | |
| XM_011522382.3:c.2043C>T | XP_011520684.1:p.Asn681= | |
| XM_017022944.1:c.2043C>T | XP_016878433.1:p.Asn681= | |
| NM_004380.3:c.2043C>T MANE Select | NP_004371.2:p.Asn681= |