Linked Data
dbSNP Id:
rs746379340
ExAC:
16:3778739 C / T
gnomAD v2:
16-3778739-C-T
gnomAD v4:
16-3728738-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728738C>T , CM000678.2:g.3728738C>T | GRCh38 |
| NC_000016.9:g.3778739C>T , CM000678.1:g.3778739C>T | GRCh37 |
| NC_000016.8:g.3718740C>T | NCBI36 |
| NG_009873.1:g.156383G>A | |
| NG_009873.2:g.156976G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6309G>A MANE Select | ENSP00000262367.5:p.Gln2103= | |
| ENST00000262367.9:c.6309G>A | ENSP00000262367.5:p.Gln2103= | |
| ENST00000382070.7:c.6195G>A | ENSP00000371502.3:p.Gln2065= | |
| NM_001079846.1:c.6195G>A | NP_001073315.1:p.Gln2065= | |
| NM_004380.2:c.6309G>A | NP_004371.2:p.Gln2103= | |
| XM_005255124.3:c.6264G>A | XP_005255181.1:p.Gln2088= | |
| XM_005255125.3:c.5892G>A | XP_005255182.1:p.Gln1964= | |
| XM_006720848.2:c.6048G>A | XP_006720911.1:p.Gln2016= | |
| XM_011522380.1:c.6255G>A | XP_011520682.1:p.Gln2085= | |
| XM_011522381.1:c.5556G>A | XP_011520683.1:p.Gln1852= | |
| XM_005255124.4:c.6264G>A | XP_005255181.1:p.Gln2088= | |
| XM_005255125.4:c.5892G>A | XP_005255182.1:p.Gln1964= | |
| XM_006720848.3:c.6048G>A | XP_006720911.1:p.Gln2016= | |
| XM_011522381.2:c.5556G>A | XP_011520683.1:p.Gln1852= | |
| XM_017022944.1:c.6303G>A | XP_016878433.1:p.Gln2101= | |
| NM_004380.3:c.6309G>A MANE Select | NP_004371.2:p.Gln2103= |