Linked Data
ClinVar Variation Id:
633679
ClinVar RCV Id:
RCV000782243
dbSNP Id:
rs1385397608
gnomAD v2:
16-31473952-C-T
gnomAD v3:
16-31462631-C-T
gnomAD v4:
16-31462631-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31462631C>T , CM000678.2:g.31462631C>T | GRCh38 |
| NC_000016.9:g.31473952C>T , CM000678.1:g.31473952C>T | GRCh37 |
| NC_000016.8:g.31381453C>T | NCBI36 |
| NG_034258.1:g.9359C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268314.9:c.1084C>T MANE Select | ENSP00000268314.4:p.Arg362Trp | |
| ENST00000268314.8:c.1084C>T | ENSP00000268314.4:p.Arg362Trp | |
| ENST00000408912.7:c.1369C>T | ENSP00000386125.3:p.Arg457Trp | |
| ENST00000457010.6:c.1084C>T | ENSP00000399561.2:p.Arg362Trp | |
| ENST00000538189.5:c.592C>T | ENSP00000443995.2:p.Arg198Trp | |
| ENST00000563544.5:c.1084C>T | ENSP00000456877.1:p.Arg362Trp | |
| ENST00000564900.1:c.213-141C>T | ||
| NM_001105247.1:c.1084C>T | NP_001098717.1:p.Arg362Trp | |
| NM_001288767.1:c.1369C>T | NP_001275696.1:p.Arg457Trp | |
| NM_001301820.1:c.1180C>T | NP_001288749.1:p.Arg394Trp | |
| NM_024742.2:c.1084C>T | NP_079018.1:p.Arg362Trp | |
| XM_006721091.1:c.1180C>T | XP_006721154.1:p.Arg394Trp | |
| XM_006721091.3:c.1180C>T | XP_006721154.1:p.Arg394Trp | |
| XM_024450448.1:c.1180C>T | XP_024306216.1:p.Arg394Trp | |
| XM_024450449.1:c.1180C>T | XP_024306217.1:p.Arg394Trp | |
| NM_001105247.2:c.1084C>T MANE Select | NP_001098717.1:p.Arg362Trp | |
| NM_001288767.2:c.1369C>T | NP_001275696.1:p.Arg457Trp |