Linked Data
dbSNP Id:
rs2051859368
gnomAD v4:
16-3729728-C-T
MyVariant Identifiers:
chr16:g.3779729C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729728C>T , CM000678.2:g.3729728C>T | GRCh38 |
| NC_000016.9:g.3779729C>T , CM000678.1:g.3779729C>T | GRCh37 |
| NC_000016.8:g.3719730C>T | NCBI36 |
| NG_009873.1:g.155393G>A | |
| NG_009873.2:g.155986G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5319G>A MANE Select | ENSP00000262367.5:p.Gln1773= | |
| ENST00000262367.9:c.5319G>A | ENSP00000262367.5:p.Gln1773= | |
| ENST00000382070.7:c.5205G>A | ENSP00000371502.3:p.Gln1735= | |
| NM_001079846.1:c.5205G>A | NP_001073315.1:p.Gln1735= | |
| NM_004380.2:c.5319G>A | NP_004371.2:p.Gln1773= | |
| XM_005255124.3:c.5274G>A | XP_005255181.1:p.Gln1758= | |
| XM_005255125.3:c.4902G>A | XP_005255182.1:p.Gln1634= | |
| XM_006720848.2:c.5058G>A | XP_006720911.1:p.Gln1686= | |
| XM_011522380.1:c.5265G>A | XP_011520682.1:p.Gln1755= | |
| XM_011522381.1:c.4566G>A | XP_011520683.1:p.Gln1522= | |
| XM_005255124.4:c.5274G>A | XP_005255181.1:p.Gln1758= | |
| XM_005255125.4:c.4902G>A | XP_005255182.1:p.Gln1634= | |
| XM_006720848.3:c.5058G>A | XP_006720911.1:p.Gln1686= | |
| XM_011522381.2:c.4566G>A | XP_011520683.1:p.Gln1522= | |
| XM_017022944.1:c.5313G>A | XP_016878433.1:p.Gln1771= | |
| NM_004380.3:c.5319G>A MANE Select | NP_004371.2:p.Gln1773= |