Linked Data
ClinVar Variation Id:
2031016
ClinVar RCV Id:
RCV002898733
dbSNP Id:
rs2151306163
MyVariant Identifiers:
chr16:g.3778946G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728945G>A , CM000678.2:g.3728945G>A | GRCh38 |
| NC_000016.9:g.3778946G>A , CM000678.1:g.3778946G>A | GRCh37 |
| NC_000016.8:g.3718947G>A | NCBI36 |
| NG_009873.1:g.156176C>T | |
| NG_009873.2:g.156769C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6102C>T MANE Select | ENSP00000262367.5:p.Gly2034= | |
| ENST00000262367.9:c.6102C>T | ENSP00000262367.5:p.Gly2034= | |
| ENST00000382070.7:c.5988C>T | ENSP00000371502.3:p.Gly1996= | |
| NM_001079846.1:c.5988C>T | NP_001073315.1:p.Gly1996= | |
| NM_004380.2:c.6102C>T | NP_004371.2:p.Gly2034= | |
| XM_005255124.3:c.6057C>T | XP_005255181.1:p.Gly2019= | |
| XM_005255125.3:c.5685C>T | XP_005255182.1:p.Gly1895= | |
| XM_006720848.2:c.5841C>T | XP_006720911.1:p.Gly1947= | |
| XM_011522380.1:c.6048C>T | XP_011520682.1:p.Gly2016= | |
| XM_011522381.1:c.5349C>T | XP_011520683.1:p.Gly1783= | |
| XM_005255124.4:c.6057C>T | XP_005255181.1:p.Gly2019= | |
| XM_005255125.4:c.5685C>T | XP_005255182.1:p.Gly1895= | |
| XM_006720848.3:c.5841C>T | XP_006720911.1:p.Gly1947= | |
| XM_011522381.2:c.5349C>T | XP_011520683.1:p.Gly1783= | |
| XM_017022944.1:c.6096C>T | XP_016878433.1:p.Gly2032= | |
| NM_004380.3:c.6102C>T MANE Select | NP_004371.2:p.Gly2034= |