Linked Data
dbSNP Id:
rs777214700
ExAC:
16:31473862 C / T
gnomAD v2:
16-31473862-C-T
gnomAD v4:
16-31462541-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31462541C>T , CM000678.2:g.31462541C>T | GRCh38 |
| NC_000016.9:g.31473862C>T , CM000678.1:g.31473862C>T | GRCh37 |
| NC_000016.8:g.31381363C>T | NCBI36 |
| NG_034258.1:g.9269C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268314.9:c.994C>T MANE Select | ENSP00000268314.4:p.Arg332Trp | |
| ENST00000268314.8:c.994C>T | ENSP00000268314.4:p.Arg332Trp | |
| ENST00000408912.7:c.1279C>T | ENSP00000386125.3:p.Arg427Trp | |
| ENST00000457010.6:c.994C>T | ENSP00000399561.2:p.Arg332Trp | |
| ENST00000538189.5:c.502C>T | ENSP00000443995.2:p.Arg168Trp | |
| ENST00000563544.5:c.994C>T | ENSP00000456877.1:p.Arg332Trp | |
| ENST00000564900.1:c.213-231C>T | ||
| NM_001105247.1:c.994C>T | NP_001098717.1:p.Arg332Trp | |
| NM_001288767.1:c.1279C>T | NP_001275696.1:p.Arg427Trp | |
| NM_001301820.1:c.1090C>T | NP_001288749.1:p.Arg364Trp | |
| NM_024742.2:c.994C>T | NP_079018.1:p.Arg332Trp | |
| XM_006721091.1:c.1090C>T | XP_006721154.1:p.Arg364Trp | |
| XM_006721091.3:c.1090C>T | XP_006721154.1:p.Arg364Trp | |
| XM_024450448.1:c.1090C>T | XP_024306216.1:p.Arg364Trp | |
| XM_024450449.1:c.1090C>T | XP_024306217.1:p.Arg364Trp | |
| NM_001105247.2:c.994C>T MANE Select | NP_001098717.1:p.Arg332Trp | |
| NM_001288767.2:c.1279C>T | NP_001275696.1:p.Arg427Trp |