Linked Data
dbSNP Id:
rs781674546
ExAC:
16:3778964 C / T
gnomAD v2:
16-3778964-C-T
gnomAD v4:
16-3728963-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728963C>T , CM000678.2:g.3728963C>T | GRCh38 |
| NC_000016.9:g.3778964C>T , CM000678.1:g.3778964C>T | GRCh37 |
| NC_000016.8:g.3718965C>T | NCBI36 |
| NG_009873.1:g.156158G>A | |
| NG_009873.2:g.156751G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6084G>A MANE Select | ENSP00000262367.5:p.Gln2028= | |
| ENST00000262367.9:c.6084G>A | ENSP00000262367.5:p.Gln2028= | |
| ENST00000382070.7:c.5970G>A | ENSP00000371502.3:p.Gln1990= | |
| NM_001079846.1:c.5970G>A | NP_001073315.1:p.Gln1990= | |
| NM_004380.2:c.6084G>A | NP_004371.2:p.Gln2028= | |
| XM_005255124.3:c.6039G>A | XP_005255181.1:p.Gln2013= | |
| XM_005255125.3:c.5667G>A | XP_005255182.1:p.Gln1889= | |
| XM_006720848.2:c.5823G>A | XP_006720911.1:p.Gln1941= | |
| XM_011522380.1:c.6030G>A | XP_011520682.1:p.Gln2010= | |
| XM_011522381.1:c.5331G>A | XP_011520683.1:p.Gln1777= | |
| XM_005255124.4:c.6039G>A | XP_005255181.1:p.Gln2013= | |
| XM_005255125.4:c.5667G>A | XP_005255182.1:p.Gln1889= | |
| XM_006720848.3:c.5823G>A | XP_006720911.1:p.Gln1941= | |
| XM_011522381.2:c.5331G>A | XP_011520683.1:p.Gln1777= | |
| XM_017022944.1:c.6078G>A | XP_016878433.1:p.Gln2026= | |
| NM_004380.3:c.6084G>A MANE Select | NP_004371.2:p.Gln2028= |