Linked Data
dbSNP Id:
rs762023878
ExAC:
1:114445483 A / C
gnomAD v2:
1-114445483-A-C
gnomAD v3:
1-113902861-A-C
gnomAD v4:
1-113902861-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113902861A>C , CM000663.2:g.113902861A>C | GRCh38 |
| NC_000001.10:g.114445483A>C , CM000663.1:g.114445483A>C | GRCh37 |
| NC_000001.9:g.114247006A>C | NCBI36 |
| NG_031901.1:g.7259T>G | |
| NG_057565.1:g.3243A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369564.6:c.114-976T>G | ENSP00000358577.2:n.114-976T>G | |
| ENST00000369567.6:c.113+1744T>G | ENSP00000358580.1:n.113+1744T>G | |
| ENST00000369571.3:c.115T>G | ENSP00000358584.3:p.Tyr39Asp | |
| ENST00000432415.6:c.113+1744T>G | ENSP00000393622.2:n.113+1744T>G | |
| ENST00000460653.2:c.115T>G | ENSP00000518881.1:p.Tyr39Asp | |
| ENST00000484201.6:c.114-976T>G | ENSP00000518883.1:n.114-976T>G | |
| ENST00000489092.6:c.114-127T>G | ENSP00000518884.1:n.114-127T>G | |
| ENST00000489499.6:c.115T>G | ENSP00000518882.1:p.Tyr39Asp | |
| ENST00000713588.1:c.115T>G | ENSP00000518880.1:p.Tyr39Asp | |
| ENST00000713590.1:c.115T>G | ENSP00000518886.1:p.Tyr39Asp | |
| ENST00000369569.6:c.115T>G MANE Select | ENSP00000358582.1:p.Tyr39Asp | |
| ENST00000256658.8:c.115T>G | ENSP00000256658.4:p.Tyr39Asp | |
| ENST00000369564.5:c.114-976T>G | ENSP00000358577.1:n.114-976T>G | |
| ENST00000369567.5:c.113+1744T>G | ENSP00000358580.1:n.113+1744T>G | |
| ENST00000369569.5:c.115T>G | ENSP00000358582.1:p.Tyr39Asp | |
| ENST00000369571.2:c.115T>G | ENSP00000358584.2:p.Tyr39Asp | |
| ENST00000432415.5:c.113+1744T>G | ENSP00000393622.1:n.113+1744T>G | |
| ENST00000484201.5:n.305-976T>G | ||
| ENST00000489092.5:n.241-127T>G | ||
| ENST00000489499.5:n.231T>G | ||
| NM_001253852.1:c.115T>G | NP_001240781.1:p.Tyr39Asp | |
| NM_001253852.2:c.115T>G | NP_001240781.1:p.Tyr39Asp | |
| NM_001253853.1:c.-56-127T>G | NP_001240782.1:n.-56-127T>G | |
| NM_001253853.2:c.-56-127T>G | NP_001240782.1:n.-56-127T>G | |
| NM_001308312.1:c.113+1744T>G | NP_001295241.1:n.113+1744T>G | |
| NM_006594.3:c.115T>G | NP_006585.2:p.Tyr39Asp | |
| NM_006594.4:c.115T>G | NP_006585.2:p.Tyr39Asp | |
| XM_005270381.2:c.115T>G | XP_005270438.1:p.Tyr39Asp | |
| XM_005270382.3:c.115T>G | XP_005270439.1:p.Tyr39Asp | |
| XM_011540523.1:c.114-976T>G | XP_011538825.1:n.114-976T>G | |
| XM_011540524.1:c.114-976T>G | XP_011538826.1:n.114-976T>G | |
| XM_011540525.1:c.115T>G | XP_011538827.1:p.Tyr39Asp | |
| XM_011540527.1:c.-356T>G | XP_011538829.1:n.-356T>G | |
| XR_246227.1:n.297T>G | ||
| XR_246228.2:n.297T>G | ||
| XM_011540523.3:c.114-976T>G | XP_011538825.1:n.114-976T>G | |
| XM_011540525.3:c.115T>G | XP_011538827.1:p.Tyr39Asp | |
| XM_017000089.2:c.115T>G | XP_016855578.1:p.Tyr39Asp | |
| XM_017000090.1:c.113+1744T>G | XP_016855579.1:n.113+1744T>G | |
| XM_017000091.2:c.115T>G | XP_016855580.1:p.Tyr39Asp | |
| XM_017000092.2:c.-1130T>G | XP_016855581.1:n.-1130T>G | |
| XM_017000093.2:c.115T>G | XP_016855582.1:p.Tyr39Asp | |
| XM_024452422.1:c.115T>G | XP_024308190.1:p.Tyr39Asp | |
| XM_024452423.1:c.115T>G | XP_024308191.1:p.Tyr39Asp | |
| XM_024452435.1:c.114-976T>G | XP_024308203.1:n.114-976T>G | |
| XM_024452441.1:c.113+1744T>G | XP_024308209.1:n.113+1744T>G | |
| XR_001736928.2:n.317T>G | ||
| XR_001736930.2:n.317T>G | ||
| XR_002958805.1:n.317T>G | ||
| XR_002958806.1:n.317T>G | ||
| XR_002958807.1:n.197T>G | ||
| NM_001253852.3:c.115T>G MANE Select | NP_001240781.1:p.Tyr39Asp | |
| NM_001253853.3:c.-56-127T>G | NP_001240782.1:n.-56-127T>G | |
| NM_001308312.2:c.113+1744T>G | NP_001295241.1:n.113+1744T>G | |
| NM_006594.5:c.115T>G | NP_006585.2:p.Tyr39Asp |