Linked Data
dbSNP Id:
rs2132027845
gnomAD v3:
9-108917571-A-T
gnomAD v4:
9-108917571-A-T
MyVariant Identifiers:
chr9:g.111679851A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108917571A>T , CM000671.2:g.108917571A>T | GRCh38 |
| NC_000009.11:g.111679851A>T , CM000671.1:g.111679851A>T | GRCh37 |
| NC_000009.10:g.110719672A>T | NCBI36 |
| NG_008788.1:g.21758T>A , LRG_251:g.21758T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374647.10:c.840T>A MANE Select | ENSP00000363779.5:p.Leu280= | |
| ENST00000495759.6:c.552+5271T>A | ENSP00000433514.2:n.552+5271T>A | |
| ENST00000674535.1:c.840T>A | ENSP00000502142.1:p.Leu280= | |
| ENST00000674704.1:n.2647T>A | ||
| ENST00000674836.1:n.1145T>A | ||
| ENST00000674890.1:c.840T>A | ENSP00000501870.1:p.Leu280= | |
| ENST00000674938.1:c.498T>A | ENSP00000502427.1:p.Leu166= | |
| ENST00000674948.1:c.498T>A | ENSP00000501602.1:p.Leu166= | |
| ENST00000675052.1:c.840T>A | ENSP00000502664.1:p.Leu280= | |
| ENST00000675078.1:c.840T>A | ENSP00000501549.1:p.Leu280= | |
| ENST00000675215.1:c.*64T>A | ENSP00000502558.1:n.*64T>A | |
| ENST00000675233.1:n.2636T>A | ||
| ENST00000675321.1:c.840T>A | ENSP00000502751.1:p.Leu280= | |
| ENST00000675325.1:n.2636T>A | ||
| ENST00000675335.1:c.840T>A | ENSP00000502182.1:p.Leu280= | |
| ENST00000675400.1:n.2513T>A | ||
| ENST00000675406.1:c.840T>A | ENSP00000501893.1:p.Leu280= | |
| ENST00000675458.1:c.933T>A | ENSP00000501754.1:n.933T>A | |
| ENST00000675507.1:n.2636T>A | ||
| ENST00000675535.1:c.840T>A | ENSP00000501667.1:p.Leu280= | |
| ENST00000675566.1:n.2636T>A | ||
| ENST00000675602.1:n.2639T>A | ||
| ENST00000675647.1:n.1145T>A | ||
| ENST00000675711.1:c.840T>A | ENSP00000502485.1:p.Leu280= | |
| ENST00000675727.1:c.840T>A | ENSP00000501722.1:p.Leu280= | |
| ENST00000675748.1:n.2474T>A | ||
| ENST00000675765.1:c.840T>A | ENSP00000502640.1:p.Leu280= | |
| ENST00000675825.1:c.840T>A | ENSP00000502632.1:p.Leu280= | |
| ENST00000675877.1:n.1145T>A | ||
| ENST00000675893.1:c.*1909T>A | ENSP00000502001.1:n.*1909T>A | |
| ENST00000675943.1:n.2636T>A | ||
| ENST00000675979.1:c.*83T>A | ENSP00000502208.1:n.*83T>A | |
| ENST00000676044.1:c.840T>A | ENSP00000502378.1:p.Leu280= | |
| ENST00000676086.1:n.2636T>A | ||
| ENST00000676121.1:n.2668T>A | ||
| ENST00000676237.1:c.741T>A | ENSP00000501828.1:p.Leu247= | |
| ENST00000676416.1:c.498T>A | ENSP00000501660.1:p.Leu166= | |
| ENST00000676424.1:n.2636T>A | ||
| ENST00000676429.1:n.5309T>A | ||
| ENST00000374647.9:c.840T>A | ENSP00000363779.5:p.Leu280= | |
| ENST00000537196.1:c.-208T>A | ENSP00000439367.1:n.-208T>A | |
| NM_003640.3:c.840T>A , LRG_251t1:c.840T>A | NP_003631.2:p.Leu280= | |
| XM_005252285.2:c.498T>A | XP_005252342.1:p.Leu166= | |
| XM_011519136.1:c.840T>A | XP_011517438.1:p.Leu280= | |
| XM_011519137.1:c.498T>A | XP_011517439.1:p.Leu166= | |
| XR_929859.1:n.1156T>A | ||
| NM_001318360.1:c.498T>A | NP_001305289.1:p.Leu166= | |
| NM_001330749.1:c.-208T>A | NP_001317678.1:n.-208T>A | |
| NM_003640.4:c.840T>A | NP_003631.2:p.Leu280= | |
| XM_011519136.2:c.840T>A | XP_011517438.1:p.Leu280= | |
| XR_929859.3:n.1167T>A | ||
| NM_003640.5:c.840T>A MANE Select | NP_003631.2:p.Leu280= | |
| NM_001318360.2:c.498T>A | NP_001305289.1:p.Leu166= | |
| NM_001330749.2:c.-208T>A | NP_001317678.1:n.-208T>A |