Linked Data
ClinVar Variation Id:
386253
dbSNP Id:
rs372260338
ExAC:
X:111000935 A / G
gnomAD v2:
X-111000935-A-G
gnomAD v3:
X-111757707-A-G
gnomAD v4:
X-111757707-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.111757707A>G , CM000685.2:g.111757707A>G | GRCh38 |
| NC_000023.10:g.111000935A>G , CM000685.1:g.111000935A>G | GRCh37 |
| NC_000023.9:g.110887591A>G | NCBI36 |
| NG_016238.1:g.81590A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623622.2:c.2682A>G | ENSP00000485624.2:p.Gln894= | |
| ENST00000699748.1:c.*2651A>G | ENSP00000514558.1:n.*2651A>G | |
| ENST00000699778.1:c.1862A>G | ENSP00000514584.1:n.1862A>G | |
| ENST00000394780.8:c.3093A>G MANE Select | ENSP00000378260.3:p.Gln1031= | |
| ENST00000636363.1:c.*1644A>G | ENSP00000490681.1:n.*1644A>G | |
| ENST00000251943.8:c.2544A>G | ENSP00000251943.4:p.Gln848= | |
| ENST00000394780.7:c.3093A>G | ENSP00000378260.3:p.Gln1031= | |
| ENST00000436609.5:c.2544A>G | ENSP00000392990.2:p.Gln848= | |
| ENST00000461669.5:n.216A>G | ||
| ENST00000470971.5:c.*2085A>G | ENSP00000479424.2:n.*2085A>G | |
| ENST00000485371.1:n.205A>G | ||
| ENST00000487243.1:n.430A>G | ||
| ENST00000495283.5:c.*2721A>G | ENSP00000427093.3:n.*2721A>G | |
| ENST00000610588.4:c.2859A>G | ENSP00000479731.1:p.Gln953= | |
| ENST00000621367.4:c.2544A>G | ENSP00000481509.1:p.Gln848= | |
| ENST00000623144.3:c.*2825A>G | ENSP00000485279.1:n.*2825A>G | |
| ENST00000623148.3:c.3111A>G | ENSP00000485658.1:n.3111A>G | |
| ENST00000624161.3:c.*2620A>G | ENSP00000485181.1:n.*2620A>G | |
| NM_001099922.2:c.3093A>G | NP_001093392.1:p.Gln1031= | |
| NM_001257230.1:c.2544A>G | NP_001244159.1:p.Gln848= | |
| NM_001257231.1:c.2859A>G | NP_001244160.1:p.Gln953= | |
| NM_001257234.1:c.2544A>G | NP_001244163.1:p.Gln848= | |
| NM_001257237.1:c.2544A>G | NP_001244166.1:p.Gln848= | |
| XM_006724693.2:c.3054A>G | XP_006724756.1:p.Gln1018= | |
| XM_006724695.2:c.2856A>G | XP_006724758.1:p.Gln952= | |
| XM_006724697.2:c.2853A>G | XP_006724760.2:p.Gln951= | |
| XM_006724698.2:c.2853A>G | XP_006724761.2:p.Gln951= | |
| XM_011531028.1:c.3165A>G | XP_011529330.1:p.Gln1055= | |
| XM_011531029.1:c.2994A>G | XP_011529331.1:p.Gln998= | |
| XM_011531030.1:c.2928A>G | XP_011529332.1:p.Gln976= | |
| XM_011531031.1:c.2853A>G | XP_011529333.1:p.Gln951= | |
| XM_011531032.1:c.2853A>G | XP_011529334.1:p.Gln951= | |
| XM_011531033.1:c.2853A>G | XP_011529335.1:p.Gln951= | |
| XM_011531034.1:c.2556A>G | XP_011529336.1:p.Gln852= | |
| XM_011531035.1:c.2361A>G | XP_011529337.1:p.Gln787= | |
| XM_011531036.1:c.1710A>G | XP_011529338.1:p.Gln570= | |
| XM_011531037.1:c.1689A>G | XP_011529339.1:p.Gln563= | |
| NM_001324292.1:c.2856A>G | NP_001311221.1:p.Gln952= | |
| NM_001324293.1:c.2370A>G | NP_001311222.1:p.Gln790= | |
| NR_148693.1:n.2636A>G | ||
| XM_006724693.3:c.3054A>G | XP_006724756.1:p.Gln1018= | |
| XM_006724697.3:c.2853A>G | XP_006724760.2:p.Gln951= | |
| XM_006724698.3:c.2853A>G | XP_006724761.2:p.Gln951= | |
| XM_011531028.2:c.3165A>G | XP_011529330.1:p.Gln1055= | |
| XM_011531030.2:c.2928A>G | XP_011529332.1:p.Gln976= | |
| XM_011531033.3:c.2853A>G | XP_011529335.1:p.Gln951= | |
| XM_011531034.2:c.2556A>G | XP_011529336.1:p.Gln852= | |
| XM_017029846.1:c.3141A>G | XP_016885335.1:p.Gln1047= | |
| XM_017029847.1:c.3126A>G | XP_016885336.1:p.Gln1042= | |
| XM_017029848.1:c.2832A>G | XP_016885337.1:p.Gln944= | |
| XM_017029851.1:c.2361A>G | XP_016885340.1:p.Gln787= | |
| XM_017029852.1:c.2196A>G | XP_016885341.1:p.Gln732= | |
| XM_017029853.1:c.1710A>G | XP_016885342.1:p.Gln570= | |
| XM_017029854.2:c.1521A>G | XP_016885343.1:p.Gln507= | |
| XM_017029855.1:c.1401A>G | XP_016885344.1:p.Gln467= | |
| NM_001099922.3:c.3093A>G MANE Select | NP_001093392.1:p.Gln1031= | |
| NM_001257230.2:c.2544A>G | NP_001244159.1:p.Gln848= | |
| NM_001324292.2:c.2856A>G | NP_001311221.1:p.Gln952= | |
| NR_148693.2:n.2584A>G | ||
| NM_001257231.2:c.2859A>G | NP_001244160.1:p.Gln953= | |
| NM_001257234.2:c.2544A>G | NP_001244163.1:p.Gln848= | |
| NM_001257237.2:c.2544A>G | NP_001244166.1:p.Gln848= |