Linked Data
ClinVar Variation Id:
39773
ClinVar RCV Id:
RCV000032992
dbSNP Id:
rs397514586
gnomAD v2:
11-118971804-A-T
gnomAD v4:
11-119101094-A-T
PubMed:
PMID:22492991
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119101094A>T , CM000673.2:g.119101094A>T | GRCh38 |
| NC_000011.9:g.118971804A>T , CM000673.1:g.118971804A>T | GRCh37 |
| NC_000011.8:g.118477014A>T | NCBI36 |
| NG_008918.1:g.5982T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.382T>A | ||
| ENST00000530052.2:n.774T>A | ||
| ENST00000682191.1:n.408T>A | ||
| ENST00000682192.1:n.408T>A | ||
| ENST00000682232.1:c.162-251T>A | ENSP00000507302.1:n.162-251T>A | |
| ENST00000682326.1:c.206T>A | ENSP00000508129.1:p.Ile69Asn | |
| ENST00000682404.1:n.774T>A | ||
| ENST00000682517.1:n.774T>A | ||
| ENST00000682652.1:n.1003T>A | ||
| ENST00000682665.1:n.429T>A | ||
| ENST00000682691.1:n.429T>A | ||
| ENST00000682791.1:c.162-217T>A | ENSP00000507312.1:n.162-217T>A | |
| ENST00000682811.1:c.206T>A | ENSP00000508196.1:p.Ile69Asn | |
| ENST00000682883.1:n.335T>A | ||
| ENST00000682946.1:c.206T>A | ENSP00000506856.1:p.Ile69Asn | |
| ENST00000683143.1:c.162-47T>A | ENSP00000507168.1:n.162-47T>A | |
| ENST00000683373.1:n.408T>A | ||
| ENST00000683558.1:n.408T>A | ||
| ENST00000683567.1:n.433T>A | ||
| ENST00000683955.1:n.429T>A | ||
| ENST00000684142.1:c.206T>A | ENSP00000508008.1:p.Ile69Asn | |
| ENST00000684252.1:n.429T>A | ||
| ENST00000684255.1:c.162-251T>A | ENSP00000507398.1:n.162-251T>A | |
| ENST00000684315.1:n.765T>A | ||
| ENST00000684345.1:c.206T>A | ENSP00000507163.1:p.Ile69Asn | |
| ENST00000684499.1:c.*137T>A | ENSP00000506800.1:n.*137T>A | |
| ENST00000684682.1:c.161+401T>A | ENSP00000507326.1:n.161+401T>A | |
| ENST00000354202.9:c.206T>A MANE Select | ENSP00000346142.4:p.Ile69Asn | |
| ENST00000639704.1:c.206T>A | ENSP00000491336.1:p.Ile69Asn | |
| ENST00000640102.1:c.162-267T>A | ENSP00000492027.1:n.162-267T>A | |
| ENST00000640747.1:c.206T>A | ENSP00000492730.1:p.Ile69Asn | |
| ENST00000354202.8:c.206T>A | ENSP00000346142.4:p.Ile69Asn | |
| ENST00000392834.7:c.162-251T>A | ENSP00000376579.3:n.162-251T>A | |
| ENST00000409993.6:c.206T>A | ENSP00000386597.2:p.Ile69Asn | |
| ENST00000414373.5:c.206T>A | ENSP00000402019.1:p.Ile69Asn | |
| ENST00000442480.1:c.133-251T>A | ENSP00000406591.1:n.133-251T>A | |
| ENST00000445653.5:n.339-47T>A | ||
| ENST00000460183.1:n.767T>A | ||
| ENST00000472016.1:n.404T>A | ||
| ENST00000481084.5:n.1049T>A | ||
| ENST00000525456.5:n.35T>A | ||
| NM_001382.3:c.206T>A | NP_001373.2:p.Ile69Asn | |
| XM_005271422.2:c.206T>A | XP_005271479.1:p.Ile69Asn | |
| XM_011542648.1:c.-39-251T>A | XP_011540950.1:n.-39-251T>A | |
| XR_947801.1:n.642T>A | ||
| XM_005271422.3:c.206T>A | XP_005271479.1:p.Ile69Asn | |
| XM_011542648.2:c.-39-251T>A | XP_011540950.1:n.-39-251T>A | |
| XM_017017293.2:c.-39-251T>A | XP_016872782.1:n.-39-251T>A | |
| XM_017017294.2:c.206T>A | XP_016872783.1:p.Ile69Asn | |
| XM_017017295.1:c.-21+401T>A | XP_016872784.1:n.-21+401T>A | |
| XR_001747785.2:n.429T>A | ||
| XR_947801.2:n.429T>A | ||
| NM_001382.4:c.206T>A MANE Select | NP_001373.2:p.Ile69Asn |