Linked Data
ClinVar Variation Id:
1694786
dbSNP Id:
rs780939128
ExAC:
16:3786682 G / A
gnomAD v2:
16-3786682-G-A
gnomAD v4:
16-3736681-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3736681G>A , CM000678.2:g.3736681G>A | GRCh38 |
| NC_000016.9:g.3786682G>A , CM000678.1:g.3786682G>A | GRCh37 |
| NC_000016.8:g.3726683G>A | NCBI36 |
| NG_009873.1:g.148440C>T | |
| NG_009873.2:g.149033C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4529C>T MANE Select | ENSP00000262367.5:p.Ala1510Val | |
| ENST00000262367.9:c.4529C>T | ENSP00000262367.5:p.Ala1510Val | |
| ENST00000382070.7:c.4415C>T | ENSP00000371502.3:p.Ala1472Val | |
| ENST00000570939.2:c.3164C>T | ENSP00000461002.2:p.Ala1055Val | |
| ENST00000571763.5:n.319C>T | ||
| ENST00000574740.1:n.350C>T | ||
| ENST00000576720.1:n.3352C>T | ||
| NM_001079846.1:c.4415C>T | NP_001073315.1:p.Ala1472Val | |
| NM_004380.2:c.4529C>T | NP_004371.2:p.Ala1510Val | |
| XM_005255124.3:c.4484C>T | XP_005255181.1:p.Ala1495Val | |
| XM_005255125.3:c.4112C>T | XP_005255182.1:p.Ala1371Val | |
| XM_006720848.2:c.4268C>T | XP_006720911.1:p.Ala1423Val | |
| XM_011522380.1:c.4475C>T | XP_011520682.1:p.Ala1492Val | |
| XM_011522381.1:c.3776C>T | XP_011520683.1:p.Ala1259Val | |
| XM_005255124.4:c.4484C>T | XP_005255181.1:p.Ala1495Val | |
| XM_005255125.4:c.4112C>T | XP_005255182.1:p.Ala1371Val | |
| XM_006720848.3:c.4268C>T | XP_006720911.1:p.Ala1423Val | |
| XM_011522381.2:c.3776C>T | XP_011520683.1:p.Ala1259Val | |
| XM_017022944.1:c.4523C>T | XP_016878433.1:p.Ala1508Val | |
| NM_004380.3:c.4529C>T MANE Select | NP_004371.2:p.Ala1510Val |