Linked Data
dbSNP Id:
rs2151306646
gnomAD v4:
16-3729023-C-G
MyVariant Identifiers:
chr16:g.3779024C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729023C>G , CM000678.2:g.3729023C>G | GRCh38 |
| NC_000016.9:g.3779024C>G , CM000678.1:g.3779024C>G | GRCh37 |
| NC_000016.8:g.3719025C>G | NCBI36 |
| NG_009873.1:g.156098G>C | |
| NG_009873.2:g.156691G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6024G>C MANE Select | ENSP00000262367.5:p.Val2008= | |
| ENST00000262367.9:c.6024G>C | ENSP00000262367.5:p.Val2008= | |
| ENST00000382070.7:c.5910G>C | ENSP00000371502.3:p.Val1970= | |
| NM_001079846.1:c.5910G>C | NP_001073315.1:p.Val1970= | |
| NM_004380.2:c.6024G>C | NP_004371.2:p.Val2008= | |
| XM_005255124.3:c.5979G>C | XP_005255181.1:p.Val1993= | |
| XM_005255125.3:c.5607G>C | XP_005255182.1:p.Val1869= | |
| XM_006720848.2:c.5763G>C | XP_006720911.1:p.Val1921= | |
| XM_011522380.1:c.5970G>C | XP_011520682.1:p.Val1990= | |
| XM_011522381.1:c.5271G>C | XP_011520683.1:p.Val1757= | |
| XM_005255124.4:c.5979G>C | XP_005255181.1:p.Val1993= | |
| XM_005255125.4:c.5607G>C | XP_005255182.1:p.Val1869= | |
| XM_006720848.3:c.5763G>C | XP_006720911.1:p.Val1921= | |
| XM_011522381.2:c.5271G>C | XP_011520683.1:p.Val1757= | |
| XM_017022944.1:c.6018G>C | XP_016878433.1:p.Val2006= | |
| NM_004380.3:c.6024G>C MANE Select | NP_004371.2:p.Val2008= |