Linked Data
dbSNP Id:
rs1346068669
gnomAD v2:
16-3778834-G-A
gnomAD v3:
16-3728833-G-A
gnomAD v4:
16-3728833-G-A
COSMIC:
COSM4060696
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728833G>A , CM000678.2:g.3728833G>A | GRCh38 |
| NC_000016.9:g.3778834G>A , CM000678.1:g.3778834G>A | GRCh37 |
| NC_000016.8:g.3718835G>A | NCBI36 |
| NG_009873.1:g.156288C>T | |
| NG_009873.2:g.156881C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6214C>T MANE Select | ENSP00000262367.5:p.Arg2072Trp | |
| ENST00000262367.9:c.6214C>T | ENSP00000262367.5:p.Arg2072Trp | |
| ENST00000382070.7:c.6100C>T | ENSP00000371502.3:p.Arg2034Trp | |
| NM_001079846.1:c.6100C>T | NP_001073315.1:p.Arg2034Trp | |
| NM_004380.2:c.6214C>T | NP_004371.2:p.Arg2072Trp | |
| XM_005255124.3:c.6169C>T | XP_005255181.1:p.Arg2057Trp | |
| XM_005255125.3:c.5797C>T | XP_005255182.1:p.Arg1933Trp | |
| XM_006720848.2:c.5953C>T | XP_006720911.1:p.Arg1985Trp | |
| XM_011522380.1:c.6160C>T | XP_011520682.1:p.Arg2054Trp | |
| XM_011522381.1:c.5461C>T | XP_011520683.1:p.Arg1821Trp | |
| XM_005255124.4:c.6169C>T | XP_005255181.1:p.Arg2057Trp | |
| XM_005255125.4:c.5797C>T | XP_005255182.1:p.Arg1933Trp | |
| XM_006720848.3:c.5953C>T | XP_006720911.1:p.Arg1985Trp | |
| XM_011522381.2:c.5461C>T | XP_011520683.1:p.Arg1821Trp | |
| XM_017022944.1:c.6208C>T | XP_016878433.1:p.Arg2070Trp | |
| NM_004380.3:c.6214C>T MANE Select | NP_004371.2:p.Arg2072Trp |