Linked Data
ClinVar Variation Id:
2913283
ClinVar RCV Id:
RCV003760533
dbSNP Id:
rs773650751
ExAC:
16:3779674 G / A
gnomAD v2:
16-3779674-G-A
gnomAD v3:
16-3729673-G-A
gnomAD v4:
16-3729673-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729673G>A , CM000678.2:g.3729673G>A | GRCh38 |
| NC_000016.9:g.3779674G>A , CM000678.1:g.3779674G>A | GRCh37 |
| NC_000016.8:g.3719675G>A | NCBI36 |
| NG_009873.1:g.155448C>T | |
| NG_009873.2:g.156041C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5374C>T MANE Select | ENSP00000262367.5:p.Leu1792= | |
| ENST00000262367.9:c.5374C>T | ENSP00000262367.5:p.Leu1792= | |
| ENST00000382070.7:c.5260C>T | ENSP00000371502.3:p.Leu1754= | |
| NM_001079846.1:c.5260C>T | NP_001073315.1:p.Leu1754= | |
| NM_004380.2:c.5374C>T | NP_004371.2:p.Leu1792= | |
| XM_005255124.3:c.5329C>T | XP_005255181.1:p.Leu1777= | |
| XM_005255125.3:c.4957C>T | XP_005255182.1:p.Leu1653= | |
| XM_006720848.2:c.5113C>T | XP_006720911.1:p.Leu1705= | |
| XM_011522380.1:c.5320C>T | XP_011520682.1:p.Leu1774= | |
| XM_011522381.1:c.4621C>T | XP_011520683.1:p.Leu1541= | |
| XM_005255124.4:c.5329C>T | XP_005255181.1:p.Leu1777= | |
| XM_005255125.4:c.4957C>T | XP_005255182.1:p.Leu1653= | |
| XM_006720848.3:c.5113C>T | XP_006720911.1:p.Leu1705= | |
| XM_011522381.2:c.4621C>T | XP_011520683.1:p.Leu1541= | |
| XM_017022944.1:c.5368C>T | XP_016878433.1:p.Leu1790= | |
| NM_004380.3:c.5374C>T MANE Select | NP_004371.2:p.Leu1792= |