Linked Data
ClinVar Variation Id:
2197265
ClinVar RCV Id:
RCV002651296
dbSNP Id:
rs201934909
ExAC:
16:3778976 C / T
gnomAD v2:
16-3778976-C-T
gnomAD v3:
16-3728975-C-T
gnomAD v4:
16-3728975-C-T
COSMIC:
COSM1377812
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728975C>T , CM000678.2:g.3728975C>T | GRCh38 |
| NC_000016.9:g.3778976C>T , CM000678.1:g.3778976C>T | GRCh37 |
| NC_000016.8:g.3718977C>T | NCBI36 |
| NG_009873.1:g.156146G>A | |
| NG_009873.2:g.156739G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6072G>A MANE Select | ENSP00000262367.5:p.Ala2024= | |
| ENST00000262367.9:c.6072G>A | ENSP00000262367.5:p.Ala2024= | |
| ENST00000382070.7:c.5958G>A | ENSP00000371502.3:p.Ala1986= | |
| NM_001079846.1:c.5958G>A | NP_001073315.1:p.Ala1986= | |
| NM_004380.2:c.6072G>A | NP_004371.2:p.Ala2024= | |
| XM_005255124.3:c.6027G>A | XP_005255181.1:p.Ala2009= | |
| XM_005255125.3:c.5655G>A | XP_005255182.1:p.Ala1885= | |
| XM_006720848.2:c.5811G>A | XP_006720911.1:p.Ala1937= | |
| XM_011522380.1:c.6018G>A | XP_011520682.1:p.Ala2006= | |
| XM_011522381.1:c.5319G>A | XP_011520683.1:p.Ala1773= | |
| XM_005255124.4:c.6027G>A | XP_005255181.1:p.Ala2009= | |
| XM_005255125.4:c.5655G>A | XP_005255182.1:p.Ala1885= | |
| XM_006720848.3:c.5811G>A | XP_006720911.1:p.Ala1937= | |
| XM_011522381.2:c.5319G>A | XP_011520683.1:p.Ala1773= | |
| XM_017022944.1:c.6066G>A | XP_016878433.1:p.Ala2022= | |
| NM_004380.3:c.6072G>A MANE Select | NP_004371.2:p.Ala2024= |