Linked Data
ClinVar Variation Id:
2415917
ClinVar RCV Id:
RCV003105129
dbSNP Id:
rs1412246479
gnomAD v2:
19-10468461-C-T
gnomAD v3:
19-10357785-C-T
gnomAD v4:
19-10357785-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10357785C>T , CM000681.2:g.10357785C>T | GRCh38 |
| NC_000019.9:g.10468461C>T , CM000681.1:g.10468461C>T | GRCh37 |
| NC_000019.8:g.10329461C>T | NCBI36 |
| NG_007872.1:g.27788G>A , LRG_121:g.27788G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*794G>A | ENSP00000514307.1:n.*794G>A | |
| ENST00000525976.6:c.2445G>A | ENSP00000434831.2:p.Leu815= | |
| ENST00000527481.3:c.2445G>A | ENSP00000466340.2:p.Leu815= | |
| ENST00000529370.6:n.2776G>A | ||
| ENST00000529739.2:n.2859G>A | ||
| ENST00000530829.2:c.*1996G>A | ENSP00000436826.2:n.*1996G>A | |
| ENST00000531836.6:c.2445G>A | ENSP00000436175.2:p.Leu815= | |
| ENST00000533334.2:c.*487G>A | ENSP00000432320.2:n.*487G>A | |
| ENST00000534228.2:n.2859G>A | ||
| ENST00000699354.1:n.547G>A | ||
| ENST00000699355.1:c.*505G>A | ENSP00000514328.1:n.*505G>A | |
| ENST00000699356.1:n.2859G>A | ||
| ENST00000699357.1:n.2859G>A | ||
| ENST00000699358.1:c.2445G>A | ENSP00000514329.1:p.Leu815= | |
| ENST00000699360.1:c.2445G>A | ENSP00000514331.1:p.Leu815= | |
| ENST00000525621.6:c.2445G>A MANE Select | ENSP00000431885.1:p.Leu815= | |
| ENST00000264818.10:c.2445G>A | ENSP00000264818.6:p.Leu815= | |
| ENST00000524462.5:c.1890G>A | ENSP00000433203.1:p.Leu630= | |
| ENST00000525621.5:c.2445G>A | ENSP00000431885.1:p.Leu815= | |
| ENST00000529370.5:c.2445G>A | ENSP00000432728.1:p.Leu815= | |
| ENST00000529412.1:n.117G>A | ||
| NM_003331.4:c.2445G>A , LRG_121t1:c.2445G>A | NP_003322.3:p.Leu815= | |
| XM_011528245.1:c.2445G>A | XP_011526547.1:p.Leu815= | |
| XM_011528246.1:c.2148G>A | XP_011526548.1:p.Leu716= | |
| XM_011528247.1:c.2148G>A | XP_011526549.1:p.Leu716= | |
| XM_011528248.1:c.2445G>A | XP_011526550.1:p.Leu815= | |
| XM_011528249.1:c.1119G>A | XP_011526551.1:p.Leu373= | |
| XM_011528251.1:c.702G>A | XP_011526553.1:p.Leu234= | |
| XM_011528246.3:c.2148G>A | XP_011526548.1:p.Leu716= | |
| XM_011528249.2:c.1119G>A | XP_011526551.1:p.Leu373= | |
| XR_001753750.1:n.2602G>A | ||
| XR_001753751.1:n.2602G>A | ||
| XR_002958353.1:n.2483G>A | ||
| NM_003331.5:c.2445G>A MANE Select | NP_003322.3:p.Leu815= | |
| NM_001385197.1:c.2445G>A | NP_001372126.1:p.Leu815= | |
| NM_001385198.1:c.2445G>A | NP_001372127.1:p.Leu815= | |
| NM_001385199.1:c.2259G>A | NP_001372128.1:p.Leu753= | |
| NM_001385200.1:c.2445G>A | NP_001372129.1:p.Leu815= | |
| NM_001385201.1:c.2247G>A | NP_001372130.1:p.Leu749= | |
| NM_001385202.1:c.2361G>A | NP_001372131.1:p.Leu787= | |
| NM_001385203.1:c.2445G>A | NP_001372132.1:p.Leu815= | |
| NM_001385204.1:c.2445G>A | NP_001372133.1:p.Leu815= | |
| NM_001385205.1:c.2355G>A | NP_001372134.1:p.Leu785= | |
| NM_001385206.1:c.2319G>A | NP_001372135.1:p.Leu773= | |
| NM_001385207.1:c.2427G>A | NP_001372136.1:p.Leu809= |