Linked Data
ClinVar Variation Id:
2594366
ClinVar RCV Id:
RCV003358762
dbSNP Id:
rs199807194
ExAC:
21:47558457 G / A
gnomAD v2:
21-47558457-G-A
gnomAD v3:
21-46138543-G-A
gnomAD v4:
21-46138543-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46138543G>A , CM000683.2:g.46138543G>A | GRCh38 |
| NC_000021.8:g.47558457G>A , CM000683.1:g.47558457G>A | GRCh37 |
| NC_000021.7:g.46382885G>A | NCBI36 |
| NG_016191.1:g.22025C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460011.6:c.-57C>T | ENSP00000507070.1:n.-57C>T | |
| ENST00000494498.2:c.142C>T | ENSP00000507847.1:p.Arg48Trp | |
| ENST00000397746.8:c.1408C>T MANE Select | ENSP00000380854.3:p.Arg470Trp | |
| ENST00000291670.9:c.1408C>T | ENSP00000291670.5:p.Arg470Trp | |
| ENST00000397743.1:c.1364C>T | ENSP00000380851.1:p.Pro455Leu | |
| ENST00000397746.7:c.1408C>T | ENSP00000380854.3:p.Arg470Trp | |
| ENST00000397748.5:c.1408C>T | ENSP00000380856.1:p.Arg470Trp | |
| ENST00000446405.5:c.30C>T | ||
| ENST00000460011.5:n.737C>T | ||
| ENST00000488577.1:n.434C>T | ||
| ENST00000494498.1:n.709C>T | ||
| ENST00000498355.6:n.1477C>T | ||
| NM_006657.2:c.1408C>T | NP_006648.1:p.Arg470Trp | |
| NM_206965.1:c.1408C>T | NP_996848.1:p.Arg470Trp | |
| XM_006723961.2:c.1657C>T | XP_006724024.2:p.Arg553Trp | |
| XM_006723962.2:c.1657C>T | XP_006724025.2:p.Arg553Trp | |
| XM_011529434.1:c.1657C>T | XP_011527736.1:p.Arg553Trp | |
| XM_011529435.1:c.1528C>T | XP_011527737.1:p.Arg510Trp | |
| XM_011529436.1:c.1657C>T | XP_011527738.1:p.Arg553Trp | |
| XM_011529437.1:c.1657C>T | XP_011527739.1:p.Arg553Trp | |
| XM_011529438.1:c.1528C>T | XP_011527740.1:p.Arg510Trp | |
| XM_011529439.1:c.1144C>T | XP_011527741.1:p.Arg382Trp | |
| XR_937433.1:n.1840C>T | ||
| NM_001320412.1:c.1408C>T | NP_001307341.1:p.Arg470Trp | |
| XM_006723961.4:c.1657C>T | XP_006724024.2:p.Arg553Trp | |
| XM_006723962.4:c.1657C>T | XP_006724025.2:p.Arg553Trp | |
| XM_011529434.3:c.1657C>T | XP_011527736.1:p.Arg553Trp | |
| XM_011529435.3:c.1528C>T | XP_011527737.1:p.Arg510Trp | |
| XM_011529436.3:c.1657C>T | XP_011527738.1:p.Arg553Trp | |
| XM_011529437.3:c.1657C>T | XP_011527739.1:p.Arg553Trp | |
| XM_011529439.2:c.1144C>T | XP_011527741.1:p.Arg382Trp | |
| XR_937433.3:n.1874C>T | ||
| NM_206965.2:c.1408C>T MANE Select | NP_996848.1:p.Arg470Trp | |
| NM_001320412.2:c.1408C>T | NP_001307341.1:p.Arg470Trp | |
| NM_006657.3:c.1408C>T | NP_006648.1:p.Arg470Trp |