Linked Data
dbSNP Id:
rs1343421360
gnomAD v2:
19-10464729-C-T
gnomAD v3:
19-10354053-C-T
gnomAD v4:
19-10354053-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10354053C>T , CM000681.2:g.10354053C>T | GRCh38 |
| NC_000019.9:g.10464729C>T , CM000681.1:g.10464729C>T | GRCh37 |
| NC_000019.8:g.10325729C>T | NCBI36 |
| NG_007872.1:g.31520G>A , LRG_121:g.31520G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*1246G>A | ENSP00000514307.1:n.*1246G>A | |
| ENST00000525976.6:c.2897G>A | ENSP00000434831.2:p.Cys966Tyr | |
| ENST00000527481.3:c.2897G>A | ENSP00000466340.2:p.Cys966Tyr | |
| ENST00000529370.6:n.4273G>A | ||
| ENST00000529739.2:n.3311G>A | ||
| ENST00000530829.2:c.*2448G>A | ENSP00000436826.2:n.*2448G>A | |
| ENST00000531836.6:c.2897G>A | ENSP00000436175.2:p.Cys966Tyr | |
| ENST00000533334.2:c.*939G>A | ENSP00000432320.2:n.*939G>A | |
| ENST00000534228.2:n.4356G>A | ||
| ENST00000699354.1:n.999G>A | ||
| ENST00000699355.1:c.*2002G>A | ENSP00000514328.1:n.*2002G>A | |
| ENST00000699356.1:n.3311G>A | ||
| ENST00000699357.1:n.4356G>A | ||
| ENST00000699358.1:c.2897G>A | ENSP00000514329.1:p.Cys966Tyr | |
| ENST00000699359.1:c.103G>A | ||
| ENST00000699360.1:c.2897G>A | ENSP00000514331.1:p.Cys966Tyr | |
| ENST00000699368.1:c.101G>A | ENSP00000514335.1:p.Cys34Tyr | |
| ENST00000525621.6:c.2897G>A MANE Select | ENSP00000431885.1:p.Cys966Tyr | |
| ENST00000264818.10:c.2897G>A | ENSP00000264818.6:p.Cys966Tyr | |
| ENST00000524462.5:c.2342G>A | ENSP00000433203.1:p.Cys781Tyr | |
| ENST00000525621.5:c.2897G>A | ENSP00000431885.1:p.Cys966Tyr | |
| ENST00000527481.2:c.193G>A | ||
| ENST00000529412.1:n.569G>A | ||
| ENST00000529739.1:c.-430G>A | ENSP00000436155.1:n.-430G>A | |
| ENST00000530560.5:c.326G>A | ENSP00000465291.1:p.Cys109Tyr | |
| ENST00000592137.1:n.51G>A | ||
| NM_003331.4:c.2897G>A , LRG_121t1:c.2897G>A | NP_003322.3:p.Cys966Tyr | |
| XM_011528245.1:c.2897G>A | XP_011526547.1:p.Cys966Tyr | |
| XM_011528246.1:c.2600G>A | XP_011526548.1:p.Cys867Tyr | |
| XM_011528247.1:c.2600G>A | XP_011526549.1:p.Cys867Tyr | |
| XM_011528248.1:c.2897G>A | XP_011526550.1:p.Cys966Tyr | |
| XM_011528249.1:c.1571G>A | XP_011526551.1:p.Cys524Tyr | |
| XM_011528251.1:c.1154G>A | XP_011526553.1:p.Cys385Tyr | |
| XM_011528246.3:c.2600G>A | XP_011526548.1:p.Cys867Tyr | |
| XM_011528249.2:c.1571G>A | XP_011526551.1:p.Cys524Tyr | |
| XR_001753750.1:n.3054G>A | ||
| XR_001753751.1:n.3054G>A | ||
| XR_002958353.1:n.3980G>A | ||
| NM_003331.5:c.2897G>A MANE Select | NP_003322.3:p.Cys966Tyr | |
| NM_001385197.1:c.2897G>A | NP_001372126.1:p.Cys966Tyr | |
| NM_001385198.1:c.2897G>A | NP_001372127.1:p.Cys966Tyr | |
| NM_001385199.1:c.2711G>A | NP_001372128.1:p.Cys904Tyr | |
| NM_001385200.1:c.2894G>A | NP_001372129.1:p.Cys965Tyr | |
| NM_001385201.1:c.2699G>A | NP_001372130.1:p.Cys900Tyr | |
| NM_001385202.1:c.2813G>A | NP_001372131.1:p.Cys938Tyr | |
| NM_001385203.1:c.2978G>A | NP_001372132.1:p.Cys993Tyr | |
| NM_001385204.1:c.3107G>A | NP_001372133.1:p.Cys1036Tyr | |
| NM_001385205.1:c.2807G>A | NP_001372134.1:p.Cys936Tyr | |
| NM_001385206.1:c.2771G>A | NP_001372135.1:p.Cys924Tyr | |
| NM_001385207.1:c.2879G>A | NP_001372136.1:p.Cys960Tyr |