Linked Data
dbSNP Id:
rs8108236
gnomAD v2:
19-10465832-G-A
gnomAD v3:
19-10355156-G-A
gnomAD v4:
19-10355156-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10355156G>A , CM000681.2:g.10355156G>A | GRCh38 |
| NC_000019.9:g.10465832G>A , CM000681.1:g.10465832G>A | GRCh37 |
| NC_000019.8:g.10326832G>A | NCBI36 |
| NG_007872.1:g.30417C>T , LRG_121:g.30417C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524470.2:c.*967-547C>T | ENSP00000514307.1:n.*967-547C>T | |
| ENST00000525976.6:c.2618-547C>T | ENSP00000434831.2:n.2618-547C>T | |
| ENST00000527481.3:c.2618-547C>T | ENSP00000466340.2:n.2618-547C>T | |
| ENST00000529370.6:n.3994-547C>T | ||
| ENST00000529739.2:n.3032-547C>T | ||
| ENST00000530829.2:c.*2169-547C>T | ENSP00000436826.2:n.*2169-547C>T | |
| ENST00000531836.6:c.2618-547C>T | ENSP00000436175.2:n.2618-547C>T | |
| ENST00000533334.2:c.*660-547C>T | ENSP00000432320.2:n.*660-547C>T | |
| ENST00000534228.2:n.4077-547C>T | ||
| ENST00000699354.1:n.720-547C>T | ||
| ENST00000699355.1:c.*1723-547C>T | ENSP00000514328.1:n.*1723-547C>T | |
| ENST00000699356.1:n.3032-547C>T | ||
| ENST00000699357.1:n.4077-547C>T | ||
| ENST00000699358.1:c.2618-547C>T | ENSP00000514329.1:n.2618-547C>T | |
| ENST00000699360.1:c.2618-547C>T | ENSP00000514331.1:n.2618-547C>T | |
| ENST00000525621.6:c.2618-547C>T MANE Select | ENSP00000431885.1:n.2618-547C>T | |
| ENST00000264818.10:c.2618-547C>T | ENSP00000264818.6:n.2618-547C>T | |
| ENST00000524462.5:c.2063-547C>T | ENSP00000433203.1:n.2063-547C>T | |
| ENST00000525621.5:c.2618-547C>T | ENSP00000431885.1:n.2618-547C>T | |
| ENST00000529412.1:n.290-547C>T | ||
| ENST00000530560.5:c.47-547C>T | ENSP00000465291.1:n.47-547C>T | |
| ENST00000534228.1:n.518-547C>T | ||
| NM_003331.4:c.2618-547C>T , LRG_121t1:c.2618-547C>T | NP_003322.3:n.2618-547C>T | |
| XM_011528245.1:c.2618-547C>T | XP_011526547.1:n.2618-547C>T | |
| XM_011528246.1:c.2321-547C>T | XP_011526548.1:n.2321-547C>T | |
| XM_011528247.1:c.2321-547C>T | XP_011526549.1:n.2321-547C>T | |
| XM_011528248.1:c.2618-547C>T | XP_011526550.1:n.2618-547C>T | |
| XM_011528249.1:c.1292-547C>T | XP_011526551.1:n.1292-547C>T | |
| XM_011528251.1:c.875-547C>T | XP_011526553.1:n.875-547C>T | |
| XM_011528246.3:c.2321-547C>T | XP_011526548.1:n.2321-547C>T | |
| XM_011528249.2:c.1292-547C>T | XP_011526551.1:n.1292-547C>T | |
| XR_001753750.1:n.2775-547C>T | ||
| XR_001753751.1:n.2775-547C>T | ||
| XR_002958353.1:n.3701-547C>T | ||
| NM_003331.5:c.2618-547C>T MANE Select | NP_003322.3:n.2618-547C>T | |
| NM_001385197.1:c.2618-547C>T | NP_001372126.1:n.2618-547C>T | |
| NM_001385198.1:c.2618-547C>T | NP_001372127.1:n.2618-547C>T | |
| NM_001385199.1:c.2432-547C>T | NP_001372128.1:n.2432-547C>T | |
| NM_001385200.1:c.2615-547C>T | NP_001372129.1:n.2615-547C>T | |
| NM_001385201.1:c.2420-547C>T | NP_001372130.1:n.2420-547C>T | |
| NM_001385202.1:c.2534-547C>T | NP_001372131.1:n.2534-547C>T | |
| NM_001385203.1:c.2618-274C>T | NP_001372132.1:n.2618-274C>T | |
| NM_001385204.1:c.2828-547C>T | NP_001372133.1:n.2828-547C>T | |
| NM_001385205.1:c.2528-547C>T | NP_001372134.1:n.2528-547C>T | |
| NM_001385206.1:c.2492-547C>T | NP_001372135.1:n.2492-547C>T | |
| NM_001385207.1:c.2600-547C>T | NP_001372136.1:n.2600-547C>T |