Linked Data
dbSNP Id:
rs10838725
gnomAD v2:
11-47557871-T-C
gnomAD v3:
11-47536319-T-C
gnomAD v4:
11-47536319-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47536319T>C , CM000673.2:g.47536319T>C | GRCh38 |
| NC_000011.9:g.47557871T>C , CM000673.1:g.47557871T>C | GRCh37 |
| NC_000011.8:g.47514447T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000687097.1:c.-154+16673A>G MANE Select | ENSP00000508525.1:n.-154+16673A>G | |
| ENST00000310513.10:c.-11+16673A>G | ENSP00000308386.5:n.-11+16673A>G | |
| ENST00000310513.9:c.-11+16673A>G | ENSP00000308386.5:n.-11+16673A>G | |
| ENST00000525841.5:c.-11+28032A>G | ENSP00000436191.1:n.-11+28032A>G | |
| ENST00000526419.1:c.-11+28955A>G | ENSP00000435423.1:n.-11+28955A>G | |
| ENST00000530151.5:c.-51+28955A>G | ENSP00000433986.1:n.-51+28955A>G | |
| ENST00000531165.5:c.-154+16673A>G | ENSP00000436864.1:n.-154+16673A>G | |
| NM_006560.3:c.-11+16673A>G | NP_006551.1:n.-11+16673A>G | |
| XM_011519855.1:c.-11+16673A>G | XP_011518157.1:n.-11+16673A>G | |
| XM_011519858.1:c.-11+28955A>G | XP_011518160.1:n.-11+28955A>G | |
| XM_017017118.1:c.-11+16673A>G | XP_016872607.1:n.-11+16673A>G | |
| XM_017017121.1:c.-11+28955A>G | XP_016872610.1:n.-11+28955A>G | |
| XM_017017123.2:c.-11+16673A>G | XP_016872612.1:n.-11+16673A>G | |
| XM_017017127.1:c.-11+28955A>G | XP_016872616.1:n.-11+28955A>G | |
| XM_017017128.2:c.-11+16673A>G | XP_016872617.1:n.-11+16673A>G | |
| XM_017017131.1:c.-11+28955A>G | XP_016872620.1:n.-11+28955A>G | |
| XM_017017132.2:c.-11+16673A>G | XP_016872621.1:n.-11+16673A>G | |
| XM_024448333.1:c.-11+16673A>G | XP_024304101.1:n.-11+16673A>G | |
| XM_024448335.1:c.-82+16673A>G | XP_024304103.1:n.-82+16673A>G | |
| NM_001025596.3:c.-11+16673A>G | NP_001020767.1:n.-11+16673A>G | |
| NM_001172640.2:c.-11+16673A>G | NP_001166111.1:n.-11+16673A>G | |
| NM_001376370.1:c.-82+16673A>G | NP_001363299.1:n.-82+16673A>G | |
| NM_001376371.1:c.-154+301A>G | NP_001363300.1:n.-154+301A>G | |
| NM_001376372.1:c.-194+16673A>G | NP_001363301.1:n.-194+16673A>G | |
| NM_001376373.1:c.-82+16673A>G | NP_001363302.1:n.-82+16673A>G | |
| NM_001376374.1:c.-82+16673A>G | NP_001363303.1:n.-82+16673A>G | |
| NM_001376376.1:c.-154+16673A>G MANE Select | NP_001363305.1:n.-154+16673A>G | |
| NM_001376377.1:c.-82+16673A>G | NP_001363306.1:n.-82+16673A>G | |
| NM_001376378.1:c.-154+301A>G | NP_001363307.1:n.-154+301A>G | |
| NM_001376379.1:c.-82+16673A>G | NP_001363308.1:n.-82+16673A>G | |
| NM_001376380.1:c.-82+16673A>G | NP_001363309.1:n.-82+16673A>G | |
| NM_001376381.1:c.-154+16673A>G | NP_001363310.1:n.-154+16673A>G | |
| NM_001376384.1:c.-194+16673A>G | NP_001363313.1:n.-194+16673A>G | |
| NM_001376385.1:c.-82+16673A>G | NP_001363314.1:n.-82+16673A>G | |
| NM_001376386.1:c.-82+16673A>G | NP_001363315.1:n.-82+16673A>G | |
| NM_001376387.1:c.-194+16673A>G | NP_001363316.1:n.-194+16673A>G | |
| NM_001376388.1:c.-82+16673A>G | NP_001363317.1:n.-82+16673A>G | |
| NM_001376389.1:c.-82+16673A>G | NP_001363318.1:n.-82+16673A>G | |
| NM_001376390.1:c.-82+16673A>G | NP_001363319.1:n.-82+16673A>G | |
| NM_001376393.1:c.-11+28955A>G | NP_001363322.1:n.-11+28955A>G | |
| NM_001376395.1:c.-11+28955A>G | NP_001363324.1:n.-11+28955A>G | |
| NM_001376396.1:c.-11+16673A>G | NP_001363325.1:n.-11+16673A>G | |
| NM_001376399.1:c.-11+16673A>G | NP_001363328.1:n.-11+16673A>G | |
| NM_001376408.1:c.-11+16673A>G | NP_001363337.1:n.-11+16673A>G | |
| NM_001376409.1:c.-123+28955A>G | NP_001363338.1:n.-123+28955A>G | |
| NM_001376410.1:c.-11+301A>G | NP_001363339.1:n.-11+301A>G | |
| NM_001376411.1:c.-11+301A>G | NP_001363340.1:n.-11+301A>G | |
| NM_001376412.1:c.-83+16673A>G | NP_001363341.1:n.-83+16673A>G | |
| NM_001376413.1:c.-11+301A>G | NP_001363342.1:n.-11+301A>G | |
| NM_001376414.1:c.-11+16673A>G | NP_001363343.1:n.-11+16673A>G | |
| NM_001376417.1:c.-11+28955A>G | NP_001363346.1:n.-11+28955A>G | |
| NM_001376419.1:c.-11+28955A>G | NP_001363348.1:n.-11+28955A>G | |
| NM_001376420.1:c.-11+16673A>G | NP_001363349.1:n.-11+16673A>G | |
| NM_001376421.1:c.-11+16673A>G | NP_001363350.1:n.-11+16673A>G | |
| NM_001376422.1:c.-11+28955A>G | NP_001363351.1:n.-11+28955A>G | |
| NM_001376423.1:c.-11+16673A>G | NP_001363352.1:n.-11+16673A>G | |
| NM_001376424.1:c.-11+16673A>G | NP_001363353.1:n.-11+16673A>G | |
| NM_001376425.1:c.-83+16673A>G | NP_001363354.1:n.-83+16673A>G | |
| NM_001376426.1:c.-11+301A>G | NP_001363355.1:n.-11+301A>G | |
| NM_001376427.1:c.-11+16673A>G | NP_001363356.1:n.-11+16673A>G | |
| NM_001376428.1:c.-11+301A>G | NP_001363357.1:n.-11+301A>G | |
| NM_001376429.1:c.-11+301A>G | NP_001363358.1:n.-11+301A>G | |
| NM_001376431.1:c.-11+16673A>G | NP_001363360.1:n.-11+16673A>G | |
| NM_001376432.1:c.-11+16673A>G | NP_001363361.1:n.-11+16673A>G | |
| NM_001376434.1:c.-11+16673A>G | NP_001363363.1:n.-11+16673A>G | |
| NM_001376435.1:c.-11+16673A>G | NP_001363364.1:n.-11+16673A>G | |
| NM_001376436.1:c.-11+301A>G | NP_001363365.1:n.-11+301A>G | |
| NM_001376437.1:c.-11+16673A>G | NP_001363366.1:n.-11+16673A>G | |
| NM_001376438.1:c.-51+16673A>G | NP_001363367.1:n.-51+16673A>G | |
| NM_001376439.1:c.-83+16673A>G | NP_001363368.1:n.-83+16673A>G | |
| NM_001376440.1:c.-83+16673A>G | NP_001363369.1:n.-83+16673A>G | |
| NM_001376443.1:c.-11+28955A>G | NP_001363372.1:n.-11+28955A>G | |
| NM_001376444.1:c.-11+16673A>G | NP_001363373.1:n.-11+16673A>G | |
| NM_001376445.1:c.-11+16673A>G | NP_001363374.1:n.-11+16673A>G | |
| NM_001376446.1:c.-11+301A>G | NP_001363375.1:n.-11+301A>G | |
| NM_001376447.1:c.-11+16673A>G | NP_001363376.1:n.-11+16673A>G | |
| NM_001376448.1:c.-11+301A>G | NP_001363377.1:n.-11+301A>G | |
| NM_001376449.1:c.-11+16673A>G | NP_001363378.1:n.-11+16673A>G | |
| NM_001376450.1:c.-11+16673A>G | NP_001363379.1:n.-11+16673A>G | |
| NM_001376452.1:c.-11+16673A>G | NP_001363381.1:n.-11+16673A>G | |
| NM_001376453.1:c.-82+16673A>G | NP_001363382.1:n.-82+16673A>G | |
| NM_001376454.1:c.-11+16673A>G | NP_001363383.1:n.-11+16673A>G | |
| NM_001376456.1:c.-11+16673A>G | NP_001363385.1:n.-11+16673A>G | |
| NM_001376457.1:c.-11+301A>G | NP_001363386.1:n.-11+301A>G | |
| NM_001376458.1:c.-11+301A>G | NP_001363387.1:n.-11+301A>G | |
| NM_001376459.1:c.-11+16673A>G | NP_001363388.1:n.-11+16673A>G | |
| NM_001376461.1:c.-11+16673A>G | NP_001363390.1:n.-11+16673A>G | |
| NM_001376462.1:c.-11+16673A>G | NP_001363391.1:n.-11+16673A>G | |
| NM_001376463.1:c.-308+16673A>G | NP_001363392.1:n.-308+16673A>G | |
| NM_006560.4:c.-11+16673A>G | NP_006551.1:n.-11+16673A>G | |
| NM_001376375.1:c.-82+16673A>G | NP_001363304.1:n.-82+16673A>G |