Linked Data
dbSNP Id:
rs1333138760
gnomAD v2:
9-111641967-T-A
gnomAD v3:
9-108879687-T-A
gnomAD v4:
9-108879687-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108879687T>A , CM000671.2:g.108879687T>A | GRCh38 |
| NC_000009.11:g.111641967T>A , CM000671.1:g.111641967T>A | GRCh37 |
| NC_000009.10:g.110681788T>A | NCBI36 |
| NG_008788.1:g.59642A>T , LRG_251:g.59642A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374647.10:c.3461-130A>T MANE Select | ENSP00000363779.5:n.3461-130A>T | |
| ENST00000495759.6:c.*2071-130A>T | ENSP00000433514.2:n.*2071-130A>T | |
| ENST00000674535.1:c.3461-130A>T | ENSP00000502142.1:n.3461-130A>T | |
| ENST00000674704.1:n.6546-130A>T | ||
| ENST00000674740.1:n.344-130A>T | ||
| ENST00000674836.1:n.4074-130A>T | ||
| ENST00000674890.1:c.*696-130A>T | ENSP00000501870.1:n.*696-130A>T | |
| ENST00000674938.1:c.3119-130A>T | ENSP00000502427.1:n.3119-130A>T | |
| ENST00000674948.1:c.3119-130A>T | ENSP00000501602.1:n.3119-130A>T | |
| ENST00000675052.1:c.3461-130A>T | ENSP00000502664.1:n.3461-130A>T | |
| ENST00000675062.1:n.507-130A>T | ||
| ENST00000675078.1:c.3461-130A>T | ENSP00000501549.1:n.3461-130A>T | |
| ENST00000675215.1:c.*2685-130A>T | ENSP00000502558.1:n.*2685-130A>T | |
| ENST00000675233.1:n.5288-130A>T | ||
| ENST00000675321.1:c.3460+365A>T | ENSP00000502751.1:n.3460+365A>T | |
| ENST00000675325.1:n.5418-130A>T | ||
| ENST00000675335.1:c.3492-130A>T | ENSP00000502182.1:n.3492-130A>T | |
| ENST00000675400.1:n.5313-130A>T | ||
| ENST00000675406.1:c.3461-130A>T | ENSP00000501893.1:n.3461-130A>T | |
| ENST00000675458.1:c.3554-130A>T | ENSP00000501754.1:n.3554-130A>T | |
| ENST00000675507.1:n.5257-130A>T | ||
| ENST00000675535.1:c.*1088-130A>T | ENSP00000501667.1:n.*1088-130A>T | |
| ENST00000675566.1:n.5319-130A>T | ||
| ENST00000675580.1:n.614-130A>T | ||
| ENST00000675602.1:n.6509-130A>T | ||
| ENST00000675647.1:n.4625-130A>T | ||
| ENST00000675711.1:c.3578-130A>T | ENSP00000502485.1:n.3578-130A>T | |
| ENST00000675727.1:c.3461-130A>T | ENSP00000501722.1:n.3461-130A>T | |
| ENST00000675748.1:n.5095-130A>T | ||
| ENST00000675765.1:c.*844-130A>T | ENSP00000502640.1:n.*844-130A>T | |
| ENST00000675825.1:c.3503-130A>T | ENSP00000502632.1:n.3503-130A>T | |
| ENST00000675877.1:n.5305-130A>T | ||
| ENST00000675893.1:c.*4530-130A>T | ENSP00000502001.1:n.*4530-130A>T | |
| ENST00000675943.1:n.7076-130A>T | ||
| ENST00000675979.1:c.*2704-130A>T | ENSP00000502208.1:n.*2704-130A>T | |
| ENST00000676044.1:c.*1121-130A>T | ENSP00000502378.1:n.*1121-130A>T | |
| ENST00000676086.1:n.5246-130A>T | ||
| ENST00000676121.1:n.5289-130A>T | ||
| ENST00000676162.1:n.190-130A>T | ||
| ENST00000676237.1:c.3404-130A>T | ENSP00000501828.1:n.3404-130A>T | |
| ENST00000676416.1:c.3161-130A>T | ENSP00000501660.1:n.3161-130A>T | |
| ENST00000676424.1:n.5299-130A>T | ||
| ENST00000676429.1:n.7930-130A>T | ||
| ENST00000374647.9:c.3461-130A>T | ENSP00000363779.5:n.3461-130A>T | |
| ENST00000467959.1:n.341-130A>T | ||
| ENST00000495759.5:c.601-130A>T | ||
| ENST00000537196.1:c.2414-130A>T | ENSP00000439367.1:n.2414-130A>T | |
| NM_003640.3:c.3461-130A>T , LRG_251t1:c.3461-130A>T | NP_003631.2:n.3461-130A>T | |
| XM_005252285.2:c.3119-130A>T | XP_005252342.1:n.3119-130A>T | |
| XM_011519136.1:c.3503-130A>T | XP_011517438.1:n.3503-130A>T | |
| XM_011519137.1:c.3161-130A>T | XP_011517439.1:n.3161-130A>T | |
| NM_001318360.1:c.3119-130A>T | NP_001305289.1:n.3119-130A>T | |
| NM_001330749.1:c.2414-130A>T | NP_001317678.1:n.2414-130A>T | |
| NM_003640.4:c.3461-130A>T | NP_003631.2:n.3461-130A>T | |
| XM_011519136.2:c.3503-130A>T | XP_011517438.1:n.3503-130A>T | |
| XR_929859.3:n.3850-130A>T | ||
| NM_003640.5:c.3461-130A>T MANE Select | NP_003631.2:n.3461-130A>T | |
| NM_001318360.2:c.3119-130A>T | NP_001305289.1:n.3119-130A>T | |
| NM_001330749.2:c.2414-130A>T | NP_001317678.1:n.2414-130A>T |