Linked Data
dbSNP Id:
rs771546273
ExAC:
16:3777991 G / A
gnomAD v2:
16-3777991-G-A
gnomAD v4:
16-3727990-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3727990G>A , CM000678.2:g.3727990G>A | GRCh38 |
| NC_000016.9:g.3777991G>A , CM000678.1:g.3777991G>A | GRCh37 |
| NC_000016.8:g.3717992G>A | NCBI36 |
| NG_009873.1:g.157131C>T | |
| NG_009873.2:g.157724C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7057C>T MANE Select | ENSP00000262367.5:p.Arg2353Trp | |
| ENST00000262367.9:c.7057C>T | ENSP00000262367.5:p.Arg2353Trp | |
| ENST00000382070.7:c.6943C>T | ENSP00000371502.3:p.Arg2315Trp | |
| NM_001079846.1:c.6943C>T | NP_001073315.1:p.Arg2315Trp | |
| NM_004380.2:c.7057C>T | NP_004371.2:p.Arg2353Trp | |
| XM_005255124.3:c.7012C>T | XP_005255181.1:p.Arg2338Trp | |
| XM_005255125.3:c.6640C>T | XP_005255182.1:p.Arg2214Trp | |
| XM_006720848.2:c.6796C>T | XP_006720911.1:p.Arg2266Trp | |
| XM_011522380.1:c.7003C>T | XP_011520682.1:p.Arg2335Trp | |
| XM_011522381.1:c.6304C>T | XP_011520683.1:p.Arg2102Trp | |
| XM_005255124.4:c.7012C>T | XP_005255181.1:p.Arg2338Trp | |
| XM_005255125.4:c.6640C>T | XP_005255182.1:p.Arg2214Trp | |
| XM_006720848.3:c.6796C>T | XP_006720911.1:p.Arg2266Trp | |
| XM_011522381.2:c.6304C>T | XP_011520683.1:p.Arg2102Trp | |
| XM_017022944.1:c.7051C>T | XP_016878433.1:p.Arg2351Trp | |
| NM_004380.3:c.7057C>T MANE Select | NP_004371.2:p.Arg2353Trp |