Linked Data
ClinVar Variation Id:
139617
ClinVar RCV Id:
RCV000128560
dbSNP Id:
rs587777508
gnomAD v4:
2-25247676-A-T
PubMed:
PMID:24614070
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25247676A>T , CM000664.2:g.25247676A>T | GRCh38 |
| NC_000002.11:g.25470545A>T , CM000664.1:g.25470545A>T | GRCh37 |
| NC_000002.10:g.25324049A>T | NCBI36 |
| NG_029465.2:g.99915T>A , LRG_459:g.99915T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683393.1:c.35T>A | ENSP00000508654.1:p.Ile12Asn | |
| ENST00000683760.1:c.260T>A | ENSP00000507765.1:p.Ile87Asn | |
| ENST00000321117.10:c.929T>A MANE Select | ENSP00000324375.5:p.Ile310Asn | |
| ENST00000264709.7:c.929T>A | ENSP00000264709.3:p.Ile310Asn | |
| ENST00000321117.9:c.929T>A | ENSP00000324375.5:p.Ile310Asn | |
| ENST00000380746.8:c.362T>A | ENSP00000370122.4:p.Ile121Asn | |
| ENST00000380756.7:c.929T>A | ENSP00000370132.3:p.Ile310Asn | |
| ENST00000402667.1:c.260T>A | ENSP00000384237.1:p.Ile87Asn | |
| ENST00000470983.5:n.376T>A | ||
| ENST00000474807.5:n.224T>A | ||
| ENST00000496570.1:n.462T>A | ||
| NM_022552.4:c.929T>A , LRG_459t1:c.929T>A | NP_072046.2:p.Ile310Asn | |
| NM_153759.3:c.362T>A , LRG_459t2:c.362T>A | NP_715640.2:p.Ile121Asn | |
| NM_175629.2:c.929T>A , LRG_459t4:c.929T>A | NP_783328.1:p.Ile310Asn | |
| XM_005264175.3:c.929T>A | XP_005264232.1:p.Ile310Asn | |
| XM_005264177.3:c.260T>A | XP_005264234.1:p.Ile87Asn | |
| XM_006711957.2:c.929T>A | XP_006712020.1:p.Ile310Asn | |
| XM_006711958.2:c.485T>A | XP_006712021.1:p.Ile162Asn | |
| XM_011532662.1:c.782T>A | XP_011530964.1:p.Ile261Asn | |
| XM_011532663.1:c.764T>A | XP_011530965.1:p.Ile255Asn | |
| XM_011532664.1:c.929T>A | XP_011530966.1:p.Ile310Asn | |
| XM_011532665.1:c.473T>A | XP_011530967.1:p.Ile158Asn | |
| XM_011532666.1:c.401T>A | XP_011530968.1:p.Ile134Asn | |
| XM_011532667.1:c.260T>A | XP_011530969.1:p.Ile87Asn | |
| XM_011532668.1:c.929T>A | XP_011530970.1:p.Ile310Asn | |
| NM_001320893.1:c.473T>A | NP_001307822.1:p.Ile158Asn | |
| NR_135490.1:n.1267T>A | ||
| XM_005264175.5:c.929T>A | XP_005264232.1:p.Ile310Asn | |
| XM_005264177.4:c.260T>A | XP_005264234.1:p.Ile87Asn | |
| XM_011532662.2:c.782T>A | XP_011530964.1:p.Ile261Asn | |
| XM_011532663.2:c.764T>A | XP_011530965.1:p.Ile255Asn | |
| XM_011532664.2:c.929T>A | XP_011530966.1:p.Ile310Asn | |
| XM_011532666.2:c.401T>A | XP_011530968.1:p.Ile134Asn | |
| XM_011532667.3:c.260T>A | XP_011530969.1:p.Ile87Asn | |
| XM_017003526.1:c.929T>A | XP_016859015.1:p.Ile310Asn | |
| XM_017003527.1:c.260T>A | XP_016859016.1:p.Ile87Asn | |
| XR_001738657.1:n.1206T>A | ||
| NM_001375819.1:c.260T>A | NP_001362748.1:p.Ile87Asn | |
| NR_135490.2:n.1160T>A | ||
| NM_022552.5:c.929T>A MANE Select | NP_072046.2:p.Ile310Asn |