Linked Data
ClinVar Variation Id:
451636
dbSNP Id:
rs368109068
ExAC:
19:10476399 G / A
gnomAD v2:
19-10476399-G-A
gnomAD v3:
19-10365723-G-A
gnomAD v4:
19-10365723-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10365723G>A , CM000681.2:g.10365723G>A | GRCh38 |
| NC_000019.9:g.10476399G>A , CM000681.1:g.10476399G>A | GRCh37 |
| NC_000019.8:g.10337399G>A | NCBI36 |
| NG_007872.1:g.19850C>T , LRG_121:g.19850C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.805C>T | ENSP00000514307.1:p.Arg269Cys | |
| ENST00000525976.6:c.805C>T | ENSP00000434831.2:p.Arg269Cys | |
| ENST00000527481.3:c.805C>T | ENSP00000466340.2:p.Arg269Cys | |
| ENST00000529370.6:n.1136C>T | ||
| ENST00000529739.2:n.1219C>T | ||
| ENST00000530829.2:c.*356C>T | ENSP00000436826.2:n.*356C>T | |
| ENST00000531836.6:c.805C>T | ENSP00000436175.2:p.Arg269Cys | |
| ENST00000533334.2:c.805C>T | ENSP00000432320.2:p.Arg269Cys | |
| ENST00000534228.2:n.1219C>T | ||
| ENST00000699355.1:c.805C>T | ENSP00000514328.1:p.Arg269Cys | |
| ENST00000699356.1:n.1219C>T | ||
| ENST00000699357.1:n.1219C>T | ||
| ENST00000699358.1:c.805C>T | ENSP00000514329.1:p.Arg269Cys | |
| ENST00000699360.1:c.805C>T | ENSP00000514331.1:p.Arg269Cys | |
| ENST00000699369.1:n.1148C>T | ||
| ENST00000699370.1:n.1170C>T | ||
| ENST00000525621.6:c.805C>T MANE Select | ENSP00000431885.1:p.Arg269Cys | |
| ENST00000264818.10:c.805C>T | ENSP00000264818.6:p.Arg269Cys | |
| ENST00000524462.5:c.250C>T | ENSP00000433203.1:p.Arg84Cys | |
| ENST00000525220.1:c.141C>T | ||
| ENST00000525621.5:c.805C>T | ENSP00000431885.1:p.Arg269Cys | |
| ENST00000529370.5:c.805C>T | ENSP00000432728.1:p.Arg269Cys | |
| NM_003331.4:c.805C>T , LRG_121t1:c.805C>T | NP_003322.3:p.Arg269Cys | |
| XM_011528245.1:c.805C>T | XP_011526547.1:p.Arg269Cys | |
| XM_011528246.1:c.508C>T | XP_011526548.1:p.Arg170Cys | |
| XM_011528247.1:c.508C>T | XP_011526549.1:p.Arg170Cys | |
| XM_011528248.1:c.805C>T | XP_011526550.1:p.Arg269Cys | |
| XM_011528250.1:c.805C>T | XP_011526552.1:p.Arg269Cys | |
| XM_011528252.1:c.805C>T | XP_011526554.1:p.Arg269Cys | |
| XM_011528246.3:c.508C>T | XP_011526548.1:p.Arg170Cys | |
| XR_001753750.1:n.962C>T | ||
| XR_001753751.1:n.962C>T | ||
| XR_001753752.1:n.962C>T | ||
| XR_002958353.1:n.962C>T | ||
| NM_003331.5:c.805C>T MANE Select | NP_003322.3:p.Arg269Cys | |
| NM_001385197.1:c.805C>T | NP_001372126.1:p.Arg269Cys | |
| NM_001385198.1:c.805C>T | NP_001372127.1:p.Arg269Cys | |
| NM_001385199.1:c.805C>T | NP_001372128.1:p.Arg269Cys | |
| NM_001385200.1:c.805C>T | NP_001372129.1:p.Arg269Cys | |
| NM_001385201.1:c.805C>T | NP_001372130.1:p.Arg269Cys | |
| NM_001385202.1:c.805C>T | NP_001372131.1:p.Arg269Cys | |
| NM_001385203.1:c.805C>T | NP_001372132.1:p.Arg269Cys | |
| NM_001385204.1:c.805C>T | NP_001372133.1:p.Arg269Cys | |
| NM_001385205.1:c.715C>T | NP_001372134.1:p.Arg239Cys | |
| NM_001385206.1:c.805C>T | NP_001372135.1:p.Arg269Cys | |
| NM_001385207.1:c.805C>T | NP_001372136.1:p.Arg269Cys |