Linked Data
dbSNP Id:
rs114233776
ExAC:
1:41618297 G / A
gnomAD v2:
1-41618297-G-A
gnomAD v3:
1-41152625-G-A
gnomAD v4:
1-41152625-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.41152625G>A , CM000663.2:g.41152625G>A | GRCh38 |
| NC_000001.10:g.41618297G>A , CM000663.1:g.41618297G>A | GRCh37 |
| NC_000001.9:g.41390884G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695335.1:c.107-941C>T MANE Select | ENSP00000511813.1:n.107-941C>T | |
| ENST00000695336.1:c.107-941C>T | ENSP00000511814.1:n.107-941C>T | |
| ENST00000695337.1:c.50C>T | ENSP00000511815.1:p.Pro17Leu | |
| ENST00000326197.11:c.50C>T | ENSP00000318094.7:p.Pro17Leu | |
| ENST00000337495.9:c.107-941C>T | ENSP00000337352.5:n.107-941C>T | |
| ENST00000361191.9:c.-37+8250C>T | ENSP00000354656.5:n.-37+8250C>T | |
| ENST00000361705.7:c.6+7100C>T | ENSP00000354996.3:n.6+7100C>T | |
| ENST00000372595.5:c.-107-941C>T | ENSP00000361676.1:n.-107-941C>T | |
| ENST00000372596.5:c.-107-941C>T | ENSP00000361677.1:n.-107-941C>T | |
| ENST00000372597.5:c.6+7100C>T | ENSP00000361678.1:n.6+7100C>T | |
| ENST00000397171.6:c.-107-941C>T | ENSP00000380356.2:n.-107-941C>T | |
| ENST00000397174.6:c.50C>T | ENSP00000380359.3:p.Pro17Leu | |
| ENST00000402904.6:c.-107-941C>T | ENSP00000386079.3:n.-107-941C>T | |
| ENST00000456518.3:c.6+7100C>T | ENSP00000403974.2:n.6+7100C>T | |
| NM_001031694.2:c.50C>T | NP_001026864.1:p.Pro17Leu | |
| NM_001172218.1:c.-107-941C>T | NP_001165689.1:n.-107-941C>T | |
| NM_001172219.1:c.107-941C>T | NP_001165690.1:n.107-941C>T | |
| NM_001172220.1:c.-37+8250C>T | NP_001165691.1:n.-37+8250C>T | |
| NM_001172221.1:c.-107-941C>T | NP_001165692.1:n.-107-941C>T | |
| NM_001172222.1:c.6+7100C>T | NP_001165693.1:n.6+7100C>T | |
| NM_012236.3:c.6+7100C>T | NP_036368.1:n.6+7100C>T | |
| XM_006710462.2:c.107-941C>T | XP_006710525.1:n.107-941C>T | |
| XM_006710464.1:c.-107-941C>T | XP_006710527.1:n.-107-941C>T | |
| XM_006710469.2:c.107-941C>T | XP_006710532.1:n.107-941C>T | |
| XM_006710470.2:c.107-941C>T | XP_006710533.1:n.107-941C>T | |
| XM_011541032.1:c.107-941C>T | XP_011539334.1:n.107-941C>T | |
| XM_011541033.1:c.50C>T | XP_011539335.1:p.Pro17Leu | |
| XM_011541034.1:c.107-941C>T | XP_011539336.1:n.107-941C>T | |
| XM_011541035.1:c.6+7100C>T | XP_011539337.1:n.6+7100C>T | |
| XM_011541036.1:c.-107-941C>T | XP_011539338.1:n.-107-941C>T | |
| XM_011541037.1:c.-37+8250C>T | XP_011539339.1:n.-37+8250C>T | |
| XM_011541038.1:c.107-941C>T | XP_011539340.1:n.107-941C>T | |
| XM_011541039.1:c.107-941C>T | XP_011539341.1:n.107-941C>T | |
| XM_011541040.1:c.107-941C>T | XP_011539342.1:n.107-941C>T | |
| XM_011541041.1:c.107-941C>T | XP_011539343.1:n.107-941C>T | |
| XM_011541042.1:c.107-941C>T | XP_011539344.1:n.107-941C>T | |
| XM_011541043.1:c.-459-941C>T | XP_011539345.1:n.-459-941C>T | |
| XR_426594.2:n.309-941C>T | ||
| XR_426595.2:n.309-941C>T | ||
| XR_946584.1:n.309-941C>T | ||
| XR_946585.1:n.309-941C>T | ||
| XR_946586.1:n.261C>T | ||
| XR_946587.1:n.309-941C>T | ||
| NM_001172222.2:c.6+7100C>T | NP_001165693.1:n.6+7100C>T | |
| NM_001350667.1:c.-201-941C>T | NP_001337596.1:n.-201-941C>T | |
| NM_001350668.1:c.-455-941C>T | NP_001337597.1:n.-455-941C>T | |
| NR_135092.1:n.419C>T | ||
| XM_011541032.2:c.107-941C>T | XP_011539334.1:n.107-941C>T | |
| XM_011541033.2:c.50C>T | XP_011539335.1:p.Pro17Leu | |
| XM_011541035.2:c.6+7100C>T | XP_011539337.1:n.6+7100C>T | |
| XM_011541036.2:c.-107-941C>T | XP_011539338.1:n.-107-941C>T | |
| XM_011541040.2:c.107-941C>T | XP_011539342.1:n.107-941C>T | |
| XM_011541043.2:c.-459-941C>T | XP_011539345.1:n.-459-941C>T | |
| XM_017000698.1:c.-11C>T | XP_016856187.1:n.-11C>T | |
| XM_017000699.1:c.-37+8250C>T | XP_016856188.1:n.-37+8250C>T | |
| XM_017000700.1:c.6+7100C>T | XP_016856189.1:n.6+7100C>T | |
| XM_017000702.1:c.-201-941C>T | XP_016856191.1:n.-201-941C>T | |
| XM_017000703.1:c.-131+7100C>T | XP_016856192.1:n.-131+7100C>T | |
| XM_017000708.1:c.-107-941C>T | XP_016856197.1:n.-107-941C>T | |
| XM_017000711.1:c.-107-941C>T | XP_016856200.1:n.-107-941C>T | |
| XM_017000712.1:c.-37+8250C>T | XP_016856201.1:n.-37+8250C>T | |
| XM_017000713.2:c.-131+8250C>T | XP_016856202.1:n.-131+8250C>T | |
| XM_024454203.1:c.-228C>T | XP_024309971.1:n.-228C>T | |
| XM_024454204.1:c.-201-941C>T | XP_024309972.1:n.-201-941C>T | |
| XM_024454206.1:c.-131+7100C>T | XP_024309974.1:n.-131+7100C>T | |
| XR_001737045.1:n.309-941C>T | ||
| XR_001737046.1:n.309-941C>T | ||
| XR_001737051.1:n.309-941C>T | ||
| XR_001737052.1:n.258-941C>T | ||
| XR_001737053.1:n.527+7100C>T | ||
| XR_001737054.1:n.258-941C>T | ||
| XR_002959757.1:n.309-941C>T | ||
| XR_002959760.1:n.309-941C>T | ||
| XR_002959761.1:n.309-941C>T | ||
| XR_002959762.1:n.309-941C>T | ||
| XR_002959763.1:n.309-941C>T | ||
| XR_946584.2:n.309-941C>T | ||
| NM_001172218.2:c.-107-941C>T | NP_001165689.1:n.-107-941C>T | |
| NM_001172219.2:c.107-941C>T | NP_001165690.1:n.107-941C>T | |
| NM_001172220.2:c.-37+8250C>T | NP_001165691.1:n.-37+8250C>T | |
| NM_001350667.2:c.-201-941C>T | NP_001337596.1:n.-201-941C>T | |
| NM_012236.4:c.6+7100C>T | NP_036368.1:n.6+7100C>T | |
| NM_001031694.3:c.50C>T | NP_001026864.1:p.Pro17Leu | |
| NM_001172221.3:c.-107-941C>T | NP_001165692.1:n.-107-941C>T | |
| NM_001172222.3:c.6+7100C>T | NP_001165693.1:n.6+7100C>T | |
| NM_001350668.2:c.-455-941C>T | NP_001337597.1:n.-455-941C>T | |
| NM_001394299.1:c.50C>T | NP_001381228.1:p.Pro17Leu | |
| NM_001394300.1:c.50C>T | NP_001381229.1:p.Pro17Leu | |
| NM_001394301.1:c.50C>T | NP_001381230.1:p.Pro17Leu | |
| NM_001394302.1:c.50C>T | NP_001381231.1:p.Pro17Leu | |
| NM_001394303.1:c.-107-941C>T | NP_001381232.1:n.-107-941C>T | |
| NM_001394304.1:c.50C>T | NP_001381233.1:p.Pro17Leu | |
| NM_001394305.1:c.50C>T | NP_001381234.1:p.Pro17Leu | |
| NM_001394306.1:c.50C>T | NP_001381235.1:p.Pro17Leu | |
| NM_001394307.1:c.6+7100C>T | NP_001381236.1:n.6+7100C>T | |
| NM_001394308.1:c.107-941C>T | NP_001381237.1:n.107-941C>T | |
| NM_001394309.1:c.-482C>T | NP_001381238.1:n.-482C>T | |
| NM_001394311.1:c.107-941C>T MANE Select | NP_001381240.1:n.107-941C>T | |
| NR_135092.2:n.797C>T |