Linked Data
dbSNP Id:
rs117964204
gnomAD v2:
17-48692082-C-T
gnomAD v3:
17-50614721-C-T
gnomAD v4:
17-50614721-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50614721C>T , CM000679.2:g.50614721C>T | GRCh38 |
| NC_000017.10:g.48692082C>T , CM000679.1:g.48692082C>T | GRCh37 |
| NC_000017.9:g.46047081C>T | NCBI36 |
| NG_032024.1:g.58654C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359106.10:c.4760-640C>T MANE Select | ENSP00000352011.5:n.4760-640C>T | |
| ENST00000352832.9:c.4658-640C>T | ENSP00000339302.5:n.4658-640C>T | |
| ENST00000354983.8:c.4658-640C>T | ENSP00000347078.4:n.4658-640C>T | |
| ENST00000358244.9:c.4658-640C>T | ENSP00000350979.5:n.4658-640C>T | |
| ENST00000359106.9:c.4760-640C>T | ENSP00000352011.5:n.4760-640C>T | |
| ENST00000360761.8:c.4691-640C>T | ENSP00000353990.4:n.4691-640C>T | |
| ENST00000429973.6:c.4706-640C>T | ENSP00000414388.2:n.4706-640C>T | |
| ENST00000442258.6:c.4637-640C>T | ENSP00000409759.2:n.4637-640C>T | |
| ENST00000502264.5:c.4691-640C>T | ENSP00000425522.1:n.4691-640C>T | |
| ENST00000503436.5:c.4691-640C>T | ENSP00000427231.1:n.4691-640C>T | |
| ENST00000503485.5:c.4658-640C>T | ENSP00000427238.1:n.4658-640C>T | |
| ENST00000503607.5:c.4637-640C>T | ENSP00000426558.1:n.4637-640C>T | |
| ENST00000504076.5:c.4727-640C>T | ENSP00000425153.1:n.4727-640C>T | |
| ENST00000505165.5:c.4760-640C>T | ENSP00000422268.1:n.4760-640C>T | |
| ENST00000506406.5:c.4760-640C>T | ENSP00000426313.1:n.4760-640C>T | |
| ENST00000507336.5:c.4727-640C>T | ENSP00000420918.1:n.4727-640C>T | |
| ENST00000507510.6:c.4760-640C>T | ENSP00000423112.2:n.4760-640C>T | |
| ENST00000507609.5:c.4760-640C>T | ENSP00000423045.1:n.4760-640C>T | |
| ENST00000507896.5:c.4727-640C>T | ENSP00000421518.1:n.4727-640C>T | |
| ENST00000510115.5:c.4658-640C>T | ENSP00000427173.1:n.4658-640C>T | |
| ENST00000510366.5:c.4604-640C>T | ENSP00000426814.1:n.4604-640C>T | |
| ENST00000511765.5:c.4706-640C>T | ENSP00000427247.1:n.4706-640C>T | |
| ENST00000511768.5:c.4691-640C>T | ENSP00000424664.1:n.4691-640C>T | |
| ENST00000512389.5:c.4727-640C>T | ENSP00000426261.1:n.4727-640C>T | |
| ENST00000513689.6:c.4625-640C>T | ENSP00000426172.2:n.4625-640C>T | |
| ENST00000513964.5:c.4625-640C>T | ENSP00000425451.1:n.4625-640C>T | |
| ENST00000514079.5:c.4781-640C>T | ENSP00000423317.1:n.4781-640C>T | |
| ENST00000514181.5:c.4706-640C>T | ENSP00000425698.1:n.4706-640C>T | |
| ENST00000514717.5:c.4589-640C>T | ENSP00000422407.1:n.4589-640C>T | |
| ENST00000515165.5:c.4760-640C>T | ENSP00000426098.1:n.4760-640C>T | |
| ENST00000515411.5:c.4706-640C>T | ENSP00000423155.1:n.4706-640C>T | |
| ENST00000515765.5:c.4727-640C>T | ENSP00000426232.1:n.4727-640C>T | |
| NM_001256324.1:c.4706-640C>T | NP_001243253.1:n.4706-640C>T | |
| NM_001256325.1:c.4781-640C>T | NP_001243254.1:n.4781-640C>T | |
| NM_001256326.1:c.4625-640C>T | NP_001243255.1:n.4625-640C>T | |
| NM_001256327.1:c.4760-640C>T | NP_001243256.1:n.4760-640C>T | |
| NM_001256328.1:c.4706-640C>T | NP_001243257.1:n.4706-640C>T | |
| NM_001256329.1:c.4658-640C>T | NP_001243258.1:n.4658-640C>T | |
| NM_001256330.1:c.4625-640C>T | NP_001243259.1:n.4625-640C>T | |
| NM_001256331.1:c.4604-640C>T | NP_001243260.1:n.4604-640C>T | |
| NM_001256332.1:c.4589-640C>T | NP_001243261.1:n.4589-640C>T | |
| NM_001256333.1:c.4760-640C>T | NP_001243262.1:n.4760-640C>T | |
| NM_001256334.1:c.4727-640C>T | NP_001243263.1:n.4727-640C>T | |
| NM_001256359.1:c.4679-640C>T | NP_001243288.1:n.4679-640C>T | |
| NM_001256360.1:c.4652-640C>T | NP_001243289.1:n.4652-640C>T | |
| NM_001256361.1:c.4646-640C>T | NP_001243290.1:n.4646-640C>T | |
| NM_018896.4:c.4760-640C>T | NP_061496.2:n.4760-640C>T | |
| NM_198376.2:c.4658-640C>T | NP_938190.1:n.4658-640C>T | |
| NM_198377.2:c.4727-640C>T | NP_938191.2:n.4727-640C>T | |
| NM_198378.2:c.4727-640C>T | NP_938192.1:n.4727-640C>T | |
| NM_198379.2:c.4658-640C>T | NP_938193.1:n.4658-640C>T | |
| NM_198380.2:c.4727-640C>T | NP_938194.1:n.4727-640C>T | |
| NM_198382.2:c.4691-640C>T | NP_938196.1:n.4691-640C>T | |
| NM_198383.2:c.4691-640C>T | NP_938197.1:n.4691-640C>T | |
| NM_198384.2:c.4760-640C>T | NP_938198.1:n.4760-640C>T | |
| NM_198385.2:c.4760-640C>T | NP_938199.1:n.4760-640C>T | |
| NM_198386.2:c.4706-640C>T | NP_938200.1:n.4706-640C>T | |
| NM_198387.2:c.4658-640C>T | NP_938201.1:n.4658-640C>T | |
| NM_198388.2:c.4637-640C>T | NP_938202.1:n.4637-640C>T | |
| NM_198396.2:c.4658-640C>T | NP_938406.1:n.4658-640C>T | |
| NR_046054.1:n.5152-640C>T | ||
| NR_046055.1:n.5119-640C>T | ||
| NR_046056.1:n.5098-640C>T | ||
| NR_046057.1:n.5083-640C>T | ||
| NR_046058.1:n.5029-640C>T | ||
| XM_006722160.2:c.4712-640C>T | XP_006722223.1:n.4712-640C>T | |
| XM_006722161.2:c.4640-640C>T | XP_006722224.1:n.4640-640C>T | |
| XM_011525440.1:c.4781-640C>T | XP_011523742.1:n.4781-640C>T | |
| XM_006722160.4:c.4712-640C>T | XP_006722223.1:n.4712-640C>T | |
| XM_006722161.4:c.4640-640C>T | XP_006722224.1:n.4640-640C>T | |
| NM_018896.5:c.4760-640C>T MANE Select | NP_061496.2:n.4760-640C>T | |
| NM_001256324.2:c.4706-640C>T | NP_001243253.1:n.4706-640C>T | |
| NM_001256325.2:c.4781-640C>T | NP_001243254.1:n.4781-640C>T | |
| NM_001256326.2:c.4625-640C>T | NP_001243255.1:n.4625-640C>T | |
| NM_001256327.2:c.4760-640C>T | NP_001243256.1:n.4760-640C>T | |
| NM_001256328.2:c.4706-640C>T | NP_001243257.1:n.4706-640C>T | |
| NM_001256329.2:c.4658-640C>T | NP_001243258.1:n.4658-640C>T | |
| NM_001256330.2:c.4625-640C>T | NP_001243259.1:n.4625-640C>T | |
| NM_001256331.2:c.4604-640C>T | NP_001243260.1:n.4604-640C>T | |
| NM_001256332.2:c.4589-640C>T | NP_001243261.1:n.4589-640C>T | |
| NM_001256333.2:c.4760-640C>T | NP_001243262.1:n.4760-640C>T | |
| NM_001256334.2:c.4727-640C>T | NP_001243263.1:n.4727-640C>T | |
| NM_001256359.2:c.4679-640C>T | NP_001243288.1:n.4679-640C>T | |
| NM_001256360.2:c.4652-640C>T | NP_001243289.1:n.4652-640C>T | |
| NM_001256361.2:c.4646-640C>T | NP_001243290.1:n.4646-640C>T | |
| NM_198376.3:c.4658-640C>T | NP_938190.1:n.4658-640C>T | |
| NM_198377.3:c.4727-640C>T | NP_938191.2:n.4727-640C>T | |
| NM_198378.3:c.4727-640C>T | NP_938192.1:n.4727-640C>T | |
| NM_198379.3:c.4658-640C>T | NP_938193.1:n.4658-640C>T | |
| NM_198380.3:c.4727-640C>T | NP_938194.1:n.4727-640C>T | |
| NM_198383.3:c.4691-640C>T | NP_938197.1:n.4691-640C>T | |
| NM_198384.3:c.4760-640C>T | NP_938198.1:n.4760-640C>T | |
| NM_198385.3:c.4760-640C>T | NP_938199.1:n.4760-640C>T | |
| NM_198386.3:c.4706-640C>T | NP_938200.1:n.4706-640C>T | |
| NM_198387.3:c.4658-640C>T | NP_938201.1:n.4658-640C>T | |
| NM_198388.3:c.4637-640C>T | NP_938202.1:n.4637-640C>T | |
| NR_046054.2:n.5505-640C>T | ||
| NR_046055.2:n.5472-640C>T | ||
| NR_046056.2:n.5451-640C>T | ||
| NR_046057.2:n.5436-640C>T | ||
| NR_046058.2:n.5382-640C>T | ||
| NM_198382.3:c.4691-640C>T | NP_938196.1:n.4691-640C>T | |
| NM_198396.3:c.4658-640C>T | NP_938406.1:n.4658-640C>T |