Linked Data
dbSNP Id:
rs780521136
ExAC:
19:10464755 C / T
gnomAD v2:
19-10464755-C-T
gnomAD v4:
19-10354079-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10354079C>T , CM000681.2:g.10354079C>T | GRCh38 |
| NC_000019.9:g.10464755C>T , CM000681.1:g.10464755C>T | GRCh37 |
| NC_000019.8:g.10325755C>T | NCBI36 |
| NG_007872.1:g.31494G>A , LRG_121:g.31494G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*1220G>A | ENSP00000514307.1:n.*1220G>A | |
| ENST00000525976.6:c.2871G>A | ENSP00000434831.2:p.Glu957= | |
| ENST00000527481.3:c.2871G>A | ENSP00000466340.2:p.Glu957= | |
| ENST00000529370.6:n.4247G>A | ||
| ENST00000529739.2:n.3285G>A | ||
| ENST00000530829.2:c.*2422G>A | ENSP00000436826.2:n.*2422G>A | |
| ENST00000531836.6:c.2871G>A | ENSP00000436175.2:p.Glu957= | |
| ENST00000533334.2:c.*913G>A | ENSP00000432320.2:n.*913G>A | |
| ENST00000534228.2:n.4330G>A | ||
| ENST00000699354.1:n.973G>A | ||
| ENST00000699355.1:c.*1976G>A | ENSP00000514328.1:n.*1976G>A | |
| ENST00000699356.1:n.3285G>A | ||
| ENST00000699357.1:n.4330G>A | ||
| ENST00000699358.1:c.2871G>A | ENSP00000514329.1:p.Glu957= | |
| ENST00000699359.1:c.77G>A | ||
| ENST00000699360.1:c.2871G>A | ENSP00000514331.1:p.Glu957= | |
| ENST00000699368.1:c.75G>A | ENSP00000514335.1:p.Glu25= | |
| ENST00000525621.6:c.2871G>A MANE Select | ENSP00000431885.1:p.Glu957= | |
| ENST00000264818.10:c.2871G>A | ENSP00000264818.6:p.Glu957= | |
| ENST00000524462.5:c.2316G>A | ENSP00000433203.1:p.Glu772= | |
| ENST00000525621.5:c.2871G>A | ENSP00000431885.1:p.Glu957= | |
| ENST00000527481.2:c.167G>A | ||
| ENST00000529412.1:n.543G>A | ||
| ENST00000530560.5:c.300G>A | ENSP00000465291.1:p.Glu100= | |
| ENST00000592137.1:n.25G>A | ||
| NM_003331.4:c.2871G>A , LRG_121t1:c.2871G>A | NP_003322.3:p.Glu957= | |
| XM_011528245.1:c.2871G>A | XP_011526547.1:p.Glu957= | |
| XM_011528246.1:c.2574G>A | XP_011526548.1:p.Glu858= | |
| XM_011528247.1:c.2574G>A | XP_011526549.1:p.Glu858= | |
| XM_011528248.1:c.2871G>A | XP_011526550.1:p.Glu957= | |
| XM_011528249.1:c.1545G>A | XP_011526551.1:p.Glu515= | |
| XM_011528251.1:c.1128G>A | XP_011526553.1:p.Glu376= | |
| XM_011528246.3:c.2574G>A | XP_011526548.1:p.Glu858= | |
| XM_011528249.2:c.1545G>A | XP_011526551.1:p.Glu515= | |
| XR_001753750.1:n.3028G>A | ||
| XR_001753751.1:n.3028G>A | ||
| XR_002958353.1:n.3954G>A | ||
| NM_003331.5:c.2871G>A MANE Select | NP_003322.3:p.Glu957= | |
| NM_001385197.1:c.2871G>A | NP_001372126.1:p.Glu957= | |
| NM_001385198.1:c.2871G>A | NP_001372127.1:p.Glu957= | |
| NM_001385199.1:c.2685G>A | NP_001372128.1:p.Glu895= | |
| NM_001385200.1:c.2868G>A | NP_001372129.1:p.Glu956= | |
| NM_001385201.1:c.2673G>A | NP_001372130.1:p.Glu891= | |
| NM_001385202.1:c.2787G>A | NP_001372131.1:p.Glu929= | |
| NM_001385203.1:c.2952G>A | NP_001372132.1:p.Glu984= | |
| NM_001385204.1:c.3081G>A | NP_001372133.1:p.Glu1027= | |
| NM_001385205.1:c.2781G>A | NP_001372134.1:p.Glu927= | |
| NM_001385206.1:c.2745G>A | NP_001372135.1:p.Glu915= | |
| NM_001385207.1:c.2853G>A | NP_001372136.1:p.Glu951= |