Linked Data
ClinVar Variation Id:
2888778
ClinVar RCV Id:
RCV003760169
dbSNP Id:
rs749161149
ExAC:
16:3786759 G / A
gnomAD v2:
16-3786759-G-A
gnomAD v3:
16-3736758-G-A
gnomAD v4:
16-3736758-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3736758G>A , CM000678.2:g.3736758G>A | GRCh38 |
| NC_000016.9:g.3786759G>A , CM000678.1:g.3786759G>A | GRCh37 |
| NC_000016.8:g.3726760G>A | NCBI36 |
| NG_009873.1:g.148363C>T | |
| NG_009873.2:g.148956C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4452C>T MANE Select | ENSP00000262367.5:p.Phe1484= | |
| ENST00000262367.9:c.4452C>T | ENSP00000262367.5:p.Phe1484= | |
| ENST00000382070.7:c.4338C>T | ENSP00000371502.3:p.Phe1446= | |
| ENST00000570939.2:c.3087C>T | ENSP00000461002.2:p.Phe1029= | |
| ENST00000571763.5:n.242C>T | ||
| ENST00000574740.1:n.273C>T | ||
| ENST00000576720.1:n.3275C>T | ||
| NM_001079846.1:c.4338C>T | NP_001073315.1:p.Phe1446= | |
| NM_004380.2:c.4452C>T | NP_004371.2:p.Phe1484= | |
| XM_005255124.3:c.4407C>T | XP_005255181.1:p.Phe1469= | |
| XM_005255125.3:c.4035C>T | XP_005255182.1:p.Phe1345= | |
| XM_006720848.2:c.4191C>T | XP_006720911.1:p.Phe1397= | |
| XM_011522380.1:c.4398C>T | XP_011520682.1:p.Phe1466= | |
| XM_011522381.1:c.3699C>T | XP_011520683.1:p.Phe1233= | |
| XM_005255124.4:c.4407C>T | XP_005255181.1:p.Phe1469= | |
| XM_005255125.4:c.4035C>T | XP_005255182.1:p.Phe1345= | |
| XM_006720848.3:c.4191C>T | XP_006720911.1:p.Phe1397= | |
| XM_011522381.2:c.3699C>T | XP_011520683.1:p.Phe1233= | |
| XM_017022944.1:c.4446C>T | XP_016878433.1:p.Phe1482= | |
| NM_004380.3:c.4452C>T MANE Select | NP_004371.2:p.Phe1484= |