Linked Data
ClinVar Variation Id:
744756
ClinVar RCV Id:
RCV000921240
dbSNP Id:
rs369423520
ExAC:
19:10476495 C / T
gnomAD v2:
19-10476495-C-T
gnomAD v3:
19-10365819-C-T
gnomAD v4:
19-10365819-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10365819C>T , CM000681.2:g.10365819C>T | GRCh38 |
| NC_000019.9:g.10476495C>T , CM000681.1:g.10476495C>T | GRCh37 |
| NC_000019.8:g.10337495C>T | NCBI36 |
| NG_007872.1:g.19754G>A , LRG_121:g.19754G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.709G>A | ENSP00000514307.1:p.Val237Ile | |
| ENST00000525976.6:c.709G>A | ENSP00000434831.2:p.Val237Ile | |
| ENST00000527481.3:c.709G>A | ENSP00000466340.2:p.Val237Ile | |
| ENST00000529370.6:n.1040G>A | ||
| ENST00000529739.2:n.1123G>A | ||
| ENST00000530829.2:c.*260G>A | ENSP00000436826.2:n.*260G>A | |
| ENST00000531836.6:c.709G>A | ENSP00000436175.2:p.Val237Ile | |
| ENST00000533334.2:c.709G>A | ENSP00000432320.2:p.Val237Ile | |
| ENST00000534228.2:n.1123G>A | ||
| ENST00000699355.1:c.709G>A | ENSP00000514328.1:p.Val237Ile | |
| ENST00000699356.1:n.1123G>A | ||
| ENST00000699357.1:n.1123G>A | ||
| ENST00000699358.1:c.709G>A | ENSP00000514329.1:p.Val237Ile | |
| ENST00000699360.1:c.709G>A | ENSP00000514331.1:p.Val237Ile | |
| ENST00000699369.1:n.1052G>A | ||
| ENST00000699370.1:n.1074G>A | ||
| ENST00000525621.6:c.709G>A MANE Select | ENSP00000431885.1:p.Val237Ile | |
| ENST00000264818.10:c.709G>A | ENSP00000264818.6:p.Val237Ile | |
| ENST00000524462.5:c.154G>A | ENSP00000433203.1:p.Val52Ile | |
| ENST00000525220.1:c.45G>A | ||
| ENST00000525621.5:c.709G>A | ENSP00000431885.1:p.Val237Ile | |
| ENST00000529370.5:c.709G>A | ENSP00000432728.1:p.Val237Ile | |
| NM_003331.4:c.709G>A , LRG_121t1:c.709G>A | NP_003322.3:p.Val237Ile | |
| XM_011528245.1:c.709G>A | XP_011526547.1:p.Val237Ile | |
| XM_011528246.1:c.412G>A | XP_011526548.1:p.Val138Ile | |
| XM_011528247.1:c.412G>A | XP_011526549.1:p.Val138Ile | |
| XM_011528248.1:c.709G>A | XP_011526550.1:p.Val237Ile | |
| XM_011528250.1:c.709G>A | XP_011526552.1:p.Val237Ile | |
| XM_011528252.1:c.709G>A | XP_011526554.1:p.Val237Ile | |
| XM_011528246.3:c.412G>A | XP_011526548.1:p.Val138Ile | |
| XR_001753750.1:n.866G>A | ||
| XR_001753751.1:n.866G>A | ||
| XR_001753752.1:n.866G>A | ||
| XR_002958353.1:n.866G>A | ||
| NM_003331.5:c.709G>A MANE Select | NP_003322.3:p.Val237Ile | |
| NM_001385197.1:c.709G>A | NP_001372126.1:p.Val237Ile | |
| NM_001385198.1:c.709G>A | NP_001372127.1:p.Val237Ile | |
| NM_001385199.1:c.709G>A | NP_001372128.1:p.Val237Ile | |
| NM_001385200.1:c.709G>A | NP_001372129.1:p.Val237Ile | |
| NM_001385201.1:c.709G>A | NP_001372130.1:p.Val237Ile | |
| NM_001385202.1:c.709G>A | NP_001372131.1:p.Val237Ile | |
| NM_001385203.1:c.709G>A | NP_001372132.1:p.Val237Ile | |
| NM_001385204.1:c.709G>A | NP_001372133.1:p.Val237Ile | |
| NM_001385205.1:c.630-11G>A | NP_001372134.1:n.630-11G>A | |
| NM_001385206.1:c.709G>A | NP_001372135.1:p.Val237Ile | |
| NM_001385207.1:c.709G>A | NP_001372136.1:p.Val237Ile |