Linked Data
dbSNP Id:
rs368043817
ExAC:
19:10463173 C / T
gnomAD v2:
19-10463173-C-T
gnomAD v3:
19-10352497-C-T
gnomAD v4:
19-10352497-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10352497C>T , CM000681.2:g.10352497C>T | GRCh38 |
| NC_000019.9:g.10463173C>T , CM000681.1:g.10463173C>T | GRCh37 |
| NC_000019.8:g.10324173C>T | NCBI36 |
| NG_007872.1:g.33076G>A , LRG_121:g.33076G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*1604G>A | ENSP00000514307.1:n.*1604G>A | |
| ENST00000525976.6:c.3255G>A | ENSP00000434831.2:p.Trp1085Ter | |
| ENST00000527481.3:c.*25G>A | ENSP00000466340.2:n.*25G>A | |
| ENST00000529370.6:n.4631G>A | ||
| ENST00000529739.2:n.4064G>A | ||
| ENST00000530829.2:c.*2806G>A | ENSP00000436826.2:n.*2806G>A | |
| ENST00000531836.6:c.3255G>A | ENSP00000436175.2:p.Trp1085Ter | |
| ENST00000533334.2:c.*1242+429G>A | ENSP00000432320.2:n.*1242+429G>A | |
| ENST00000534228.2:n.5054+429G>A | ||
| ENST00000699354.1:n.1357G>A | ||
| ENST00000699355.1:c.*2755G>A | ENSP00000514328.1:n.*2755G>A | |
| ENST00000699356.1:n.4064G>A | ||
| ENST00000699357.1:n.5109G>A | ||
| ENST00000699358.1:c.3200+429G>A | ENSP00000514329.1:n.3200+429G>A | |
| ENST00000699359.1:c.429G>A | ||
| ENST00000699360.1:c.3213G>A | ENSP00000514331.1:p.Trp1071Ter | |
| ENST00000699361.1:n.289G>A | ||
| ENST00000699362.1:c.151G>A | ENSP00000514332.1:n.151G>A | |
| ENST00000699363.1:c.151G>A | ENSP00000514333.1:n.151G>A | |
| ENST00000699364.1:n.255G>A | ||
| ENST00000699365.1:c.324G>A | ENSP00000514334.1:p.Trp108Ter | |
| ENST00000699366.1:n.111+1317G>A | ||
| ENST00000699367.1:n.111+1317G>A | ||
| ENST00000699368.1:c.742G>A | ENSP00000514335.1:n.742G>A | |
| ENST00000525621.6:c.3255G>A MANE Select | ENSP00000431885.1:p.Trp1085Ter | |
| ENST00000264818.10:c.3255G>A | ENSP00000264818.6:p.Trp1085Ter | |
| ENST00000524462.5:c.2700G>A | ENSP00000433203.1:p.Trp900Ter | |
| ENST00000525621.5:c.3255G>A | ENSP00000431885.1:p.Trp1085Ter | |
| ENST00000527481.2:c.432G>A | ||
| ENST00000529422.1:n.116+525G>A | ||
| ENST00000529739.1:c.324G>A | ENSP00000436155.1:p.Trp108Ter | |
| ENST00000530220.1:n.331+429G>A | ||
| ENST00000530560.5:c.338-1529G>A | ENSP00000465291.1:n.338-1529G>A | |
| ENST00000592137.1:n.409G>A | ||
| NM_003331.4:c.3255G>A , LRG_121t1:c.3255G>A | NP_003322.3:p.Trp1085Ter | |
| XM_011528245.1:c.3255G>A | XP_011526547.1:p.Trp1085Ter | |
| XM_011528246.1:c.2958G>A | XP_011526548.1:p.Trp986Ter | |
| XM_011528247.1:c.2958G>A | XP_011526549.1:p.Trp986Ter | |
| XM_011528248.1:c.3200+429G>A | XP_011526550.1:n.3200+429G>A | |
| XM_011528249.1:c.1929G>A | XP_011526551.1:p.Trp643Ter | |
| XM_011528251.1:c.1512G>A | XP_011526553.1:p.Trp504Ter | |
| XM_011528246.3:c.2958G>A | XP_011526548.1:p.Trp986Ter | |
| XM_011528249.2:c.1929G>A | XP_011526551.1:p.Trp643Ter | |
| XR_001753750.1:n.3357+429G>A | ||
| XR_001753751.1:n.3807G>A | ||
| XR_002958353.1:n.4733G>A | ||
| NM_003331.5:c.3255G>A MANE Select | NP_003322.3:p.Trp1085Ter | |
| NM_001385197.1:c.3255G>A | NP_001372126.1:p.Trp1085Ter | |
| NM_001385198.1:c.3168+461G>A | NP_001372127.1:n.3168+461G>A | |
| NM_001385199.1:c.3069G>A | NP_001372128.1:p.Trp1023Ter | |
| NM_001385200.1:c.3252G>A | NP_001372129.1:p.Trp1084Ter | |
| NM_001385201.1:c.3057G>A | NP_001372130.1:p.Trp1019Ter | |
| NM_001385202.1:c.3171G>A | NP_001372131.1:p.Trp1057Ter | |
| NM_001385203.1:c.3336G>A | NP_001372132.1:p.Trp1112Ter | |
| NM_001385204.1:c.3465G>A | NP_001372133.1:p.Trp1155Ter | |
| NM_001385205.1:c.3165G>A | NP_001372134.1:p.Trp1055Ter | |
| NM_001385206.1:c.3129G>A | NP_001372135.1:p.Trp1043Ter | |
| NM_001385207.1:c.3237G>A | NP_001372136.1:p.Trp1079Ter |