Linked Data
dbSNP Id:
rs4696480
gnomAD v2:
4-154607126-T-A
gnomAD v3:
4-153685974-T-A
gnomAD v4:
4-153685974-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.153685974T>A , CM000666.2:g.153685974T>A | GRCh38 |
| NC_000004.11:g.154607126T>A , CM000666.1:g.154607126T>A | GRCh37 |
| NC_000004.10:g.154826576T>A | NCBI36 |
| NG_016229.1:g.6686T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000643501.2:c.-373+1614T>A | ENSP00000496208.2:n.-373+1614T>A | |
| ENST00000646219.2:c.-447+1614T>A | ENSP00000496676.2:n.-447+1614T>A | |
| ENST00000646900.2:c.-148+1614T>A | ENSP00000493968.2:n.-148+1614T>A | |
| ENST00000642580.1:c.-89+1614T>A | ENSP00000495339.1:n.-89+1614T>A | |
| ENST00000642700.2:c.-163+1614T>A MANE Select | ENSP00000494425.1:n.-163+1614T>A | |
| ENST00000643501.1:c.-373+1614T>A | ENSP00000496208.1:n.-373+1614T>A | |
| ENST00000645889.1:n.71+1614T>A | ||
| ENST00000646219.1:c.-447+1614T>A | ENSP00000496676.1:n.-447+1614T>A | |
| ENST00000646900.1:c.-148+1614T>A | ENSP00000493968.1:n.-148+1614T>A | |
| NM_003264.3:c.-148+1614T>A | NP_003255.2:n.-148+1614T>A | |
| XM_005263194.2:c.-163+1614T>A | XP_005263251.1:n.-163+1614T>A | |
| XM_005263195.2:c.-89+1614T>A | XP_005263252.1:n.-89+1614T>A | |
| XM_005263196.2:c.-129+1614T>A | XP_005263253.1:n.-129+1614T>A | |
| XM_005263197.2:c.-104+1614T>A | XP_005263254.1:n.-104+1614T>A | |
| XM_011532215.1:c.-70+1614T>A | XP_011530517.1:n.-70+1614T>A | |
| XM_011532216.1:c.-17+1614T>A | XP_011530518.1:n.-17+1614T>A | |
| NM_001318787.1:c.-373+1614T>A | NP_001305716.1:n.-373+1614T>A | |
| NM_001318789.1:c.-163+1614T>A | NP_001305718.1:n.-163+1614T>A | |
| NM_001318790.1:c.-163+1637T>A | NP_001305719.1:n.-163+1637T>A | |
| NM_001318791.1:c.-129+1614T>A | NP_001305720.1:n.-129+1614T>A | |
| NM_001318793.1:c.-148+1637T>A | NP_001305722.1:n.-148+1637T>A | |
| NM_001318795.1:c.-104+1614T>A | NP_001305724.1:n.-104+1614T>A | |
| NM_001318796.1:c.-89+1614T>A | NP_001305725.1:n.-89+1614T>A | |
| NM_003264.4:c.-148+1614T>A | NP_003255.2:n.-148+1614T>A | |
| XM_011532215.2:c.-70+1614T>A | XP_011530517.1:n.-70+1614T>A | |
| XM_011532216.2:c.-17+1614T>A | XP_011530518.1:n.-17+1614T>A | |
| XM_017008573.1:c.-447+1614T>A | XP_016864062.1:n.-447+1614T>A | |
| XM_017008574.1:c.-298+1614T>A | XP_016864063.1:n.-298+1614T>A | |
| XM_017008575.1:c.-342+1614T>A | XP_016864064.1:n.-342+1614T>A | |
| NM_001318787.2:c.-373+1614T>A | NP_001305716.1:n.-373+1614T>A | |
| NM_001318789.2:c.-163+1614T>A MANE Select | NP_001305718.1:n.-163+1614T>A | |
| NM_001318790.2:c.-163+1637T>A | NP_001305719.1:n.-163+1637T>A | |
| NM_001318791.2:c.-129+1614T>A | NP_001305720.1:n.-129+1614T>A | |
| NM_001318793.2:c.-148+1637T>A | NP_001305722.1:n.-148+1637T>A | |
| NM_001318795.2:c.-104+1614T>A | NP_001305724.1:n.-104+1614T>A | |
| NM_001318796.2:c.-89+1614T>A | NP_001305725.1:n.-89+1614T>A | |
| NM_003264.5:c.-148+1614T>A | NP_003255.2:n.-148+1614T>A |