Linked Data
dbSNP Id:
rs528177486
ExAC:
16:3778900 C / T
gnomAD v2:
16-3778900-C-T
gnomAD v3:
16-3728899-C-T
gnomAD v4:
16-3728899-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728899C>T , CM000678.2:g.3728899C>T | GRCh38 |
| NC_000016.9:g.3778900C>T , CM000678.1:g.3778900C>T | GRCh37 |
| NC_000016.8:g.3718901C>T | NCBI36 |
| NG_009873.1:g.156222G>A | |
| NG_009873.2:g.156815G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6148G>A MANE Select | ENSP00000262367.5:p.Gly2050Arg | |
| ENST00000262367.9:c.6148G>A | ENSP00000262367.5:p.Gly2050Arg | |
| ENST00000382070.7:c.6034G>A | ENSP00000371502.3:p.Gly2012Arg | |
| NM_001079846.1:c.6034G>A | NP_001073315.1:p.Gly2012Arg | |
| NM_004380.2:c.6148G>A | NP_004371.2:p.Gly2050Arg | |
| XM_005255124.3:c.6103G>A | XP_005255181.1:p.Gly2035Arg | |
| XM_005255125.3:c.5731G>A | XP_005255182.1:p.Gly1911Arg | |
| XM_006720848.2:c.5887G>A | XP_006720911.1:p.Gly1963Arg | |
| XM_011522380.1:c.6094G>A | XP_011520682.1:p.Gly2032Arg | |
| XM_011522381.1:c.5395G>A | XP_011520683.1:p.Gly1799Arg | |
| XM_005255124.4:c.6103G>A | XP_005255181.1:p.Gly2035Arg | |
| XM_005255125.4:c.5731G>A | XP_005255182.1:p.Gly1911Arg | |
| XM_006720848.3:c.5887G>A | XP_006720911.1:p.Gly1963Arg | |
| XM_011522381.2:c.5395G>A | XP_011520683.1:p.Gly1799Arg | |
| XM_017022944.1:c.6142G>A | XP_016878433.1:p.Gly2048Arg | |
| NM_004380.3:c.6148G>A MANE Select | NP_004371.2:p.Gly2050Arg |