Linked Data
dbSNP Id:
rs761138453
ExAC:
16:3777766 C / T
gnomAD v2:
16-3777766-C-T
gnomAD v3:
16-3727765-C-T
gnomAD v4:
16-3727765-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3727765C>T , CM000678.2:g.3727765C>T | GRCh38 |
| NC_000016.9:g.3777766C>T , CM000678.1:g.3777766C>T | GRCh37 |
| NC_000016.8:g.3717767C>T | NCBI36 |
| NG_009873.1:g.157356G>A | |
| NG_009873.2:g.157949G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7282G>A MANE Select | ENSP00000262367.5:p.Gly2428Arg | |
| ENST00000262367.9:c.7282G>A | ENSP00000262367.5:p.Gly2428Arg | |
| ENST00000382070.7:c.7168G>A | ENSP00000371502.3:p.Gly2390Arg | |
| NM_001079846.1:c.7168G>A | NP_001073315.1:p.Gly2390Arg | |
| NM_004380.2:c.7282G>A | NP_004371.2:p.Gly2428Arg | |
| XM_005255124.3:c.7237G>A | XP_005255181.1:p.Gly2413Arg | |
| XM_005255125.3:c.6865G>A | XP_005255182.1:p.Gly2289Arg | |
| XM_006720848.2:c.7021G>A | XP_006720911.1:p.Gly2341Arg | |
| XM_011522380.1:c.7228G>A | XP_011520682.1:p.Gly2410Arg | |
| XM_011522381.1:c.6529G>A | XP_011520683.1:p.Gly2177Arg | |
| XM_005255124.4:c.7237G>A | XP_005255181.1:p.Gly2413Arg | |
| XM_005255125.4:c.6865G>A | XP_005255182.1:p.Gly2289Arg | |
| XM_006720848.3:c.7021G>A | XP_006720911.1:p.Gly2341Arg | |
| XM_011522381.2:c.6529G>A | XP_011520683.1:p.Gly2177Arg | |
| XM_017022944.1:c.7276G>A | XP_016878433.1:p.Gly2426Arg | |
| NM_004380.3:c.7282G>A MANE Select | NP_004371.2:p.Gly2428Arg |