Linked Data
dbSNP Id:
rs11850957
gnomAD v2:
14-25479542-C-T
gnomAD v3:
14-25010336-C-T
gnomAD v4:
14-25010336-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.25010336C>T , CM000676.2:g.25010336C>T | GRCh38 |
| NC_000014.8:g.25479542C>T , CM000676.1:g.25479542C>T | GRCh37 |
| NC_000014.7:g.24549382C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323944.10:c.-32-35486G>A MANE Select | ENSP00000324302.5:n.-32-35486G>A | |
| ENST00000323944.9:c.-32-35486G>A | ENSP00000324302.5:n.-32-35486G>A | |
| ENST00000396700.5:c.-33+189G>A | ENSP00000379928.1:n.-33+189G>A | |
| ENST00000419632.6:c.-32-35486G>A | ENSP00000397212.2:n.-32-35486G>A | |
| ENST00000546511.5:c.-32-35486G>A | ENSP00000449536.1:n.-32-35486G>A | |
| ENST00000548182.1:c.-119-22364G>A | ENSP00000447268.1:n.-119-22364G>A | |
| ENST00000550887.5:c.-154+189G>A | ENSP00000449379.1:n.-154+189G>A | |
| NM_001304476.1:c.-33+189G>A | NP_001291405.1:n.-33+189G>A | |
| NM_001304477.1:c.-32-35486G>A | NP_001291406.1:n.-32-35486G>A | |
| NM_014178.7:c.-32-35486G>A | NP_054897.4:n.-32-35486G>A | |
| XM_011536669.1:c.-87+39542G>A | XP_011534971.1:n.-87+39542G>A | |
| NM_001351940.1:c.-83-22364G>A | NP_001338869.1:n.-83-22364G>A | |
| NM_001351941.1:c.-32-35486G>A | NP_001338870.1:n.-32-35486G>A | |
| NM_001351942.1:c.-108-33093G>A | NP_001338871.1:n.-108-33093G>A | |
| NM_001351943.1:c.-108-33093G>A | NP_001338872.1:n.-108-33093G>A | |
| XM_011536669.2:c.-87+39542G>A | XP_011534971.1:n.-87+39542G>A | |
| XM_017021231.2:c.-32-35486G>A | XP_016876720.1:n.-32-35486G>A | |
| XM_017021232.1:c.-84+189G>A | XP_016876721.1:n.-84+189G>A | |
| XM_017021234.1:c.-84+22207G>A | XP_016876723.1:n.-84+22207G>A | |
| XM_017021235.1:c.-33+189G>A | XP_016876724.1:n.-33+189G>A | |
| XM_017021240.2:c.-33+22207G>A | XP_016876729.1:n.-33+22207G>A | |
| XM_017021241.1:c.-33+34584G>A | XP_016876730.1:n.-33+34584G>A | |
| XM_024449547.1:c.-109+189G>A | XP_024305315.1:n.-109+189G>A | |
| NM_001304476.2:c.-33+189G>A | NP_001291405.1:n.-33+189G>A | |
| NM_001304477.2:c.-32-35486G>A | NP_001291406.1:n.-32-35486G>A | |
| NM_001351940.2:c.-83-22364G>A | NP_001338869.1:n.-83-22364G>A | |
| NM_001351941.2:c.-32-35486G>A | NP_001338870.1:n.-32-35486G>A | |
| NM_001351942.2:c.-108-33093G>A | NP_001338871.1:n.-108-33093G>A | |
| NM_001351943.2:c.-108-33093G>A | NP_001338872.1:n.-108-33093G>A | |
| NM_014178.8:c.-32-35486G>A | NP_054897.4:n.-32-35486G>A | |
| NM_001304476.3:c.-33+189G>A | NP_001291405.1:n.-33+189G>A | |
| NM_001304477.3:c.-32-35486G>A | NP_001291406.1:n.-32-35486G>A | |
| NM_001351940.3:c.-119-22364G>A | NP_001338869.2:n.-119-22364G>A | |
| NM_001351941.3:c.-32-35486G>A | NP_001338870.1:n.-32-35486G>A | |
| NM_001351942.3:c.-108-33093G>A | NP_001338871.1:n.-108-33093G>A | |
| NM_001351943.3:c.-108-33093G>A | NP_001338872.1:n.-108-33093G>A | |
| NM_001394410.1:c.-32-35486G>A MANE Select | NP_001381339.1:n.-32-35486G>A | |
| NM_001394411.1:c.-120+22207G>A | NP_001381340.1:n.-120+22207G>A | |
| NM_001394412.1:c.-153-15352G>A | NP_001381341.1:n.-153-15352G>A | |
| NM_001394413.1:c.-33+22207G>A | NP_001381342.1:n.-33+22207G>A | |
| NM_001394414.1:c.-116-10935G>A | NP_001381343.1:n.-116-10935G>A | |
| NM_001394415.1:c.-226-22364G>A | NP_001381344.1:n.-226-22364G>A | |
| NM_001394416.1:c.-33+189G>A | NP_001381345.1:n.-33+189G>A | |
| NM_001394417.1:c.-33+189G>A | NP_001381346.1:n.-33+189G>A | |
| NM_001394418.1:c.-87+39542G>A | NP_001381347.1:n.-87+39542G>A | |
| NM_001394419.1:c.-87+189G>A | NP_001381348.1:n.-87+189G>A | |
| NM_001394420.1:c.-32-35486G>A | NP_001381349.1:n.-32-35486G>A | |
| NM_014178.9:c.-32-35486G>A | NP_054897.4:n.-32-35486G>A |