Linked Data
dbSNP Id:
rs1898830
gnomAD v2:
4-154608453-A-G
gnomAD v3:
4-153687301-A-G
gnomAD v4:
4-153687301-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.153687301A>G , CM000666.2:g.153687301A>G | GRCh38 |
| NC_000004.11:g.154608453A>G , CM000666.1:g.154608453A>G | GRCh37 |
| NC_000004.10:g.154827903A>G | NCBI36 |
| NG_016229.1:g.8013A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000643501.2:c.-372-616A>G | ENSP00000496208.2:n.-372-616A>G | |
| ENST00000646219.2:c.-446-601A>G | ENSP00000496676.2:n.-446-601A>G | |
| ENST00000646900.2:c.-147-616A>G | ENSP00000493968.2:n.-147-616A>G | |
| ENST00000642580.1:c.-88-616A>G | ENSP00000495339.1:n.-88-616A>G | |
| ENST00000642700.2:c.-162-601A>G MANE Select | ENSP00000494425.1:n.-162-601A>G | |
| ENST00000643501.1:c.-372-616A>G | ENSP00000496208.1:n.-372-616A>G | |
| ENST00000645889.1:n.72-601A>G | ||
| ENST00000646219.1:c.-446-601A>G | ENSP00000496676.1:n.-446-601A>G | |
| ENST00000646900.1:c.-147-616A>G | ENSP00000493968.1:n.-147-616A>G | |
| NM_003264.3:c.-147-616A>G | NP_003255.2:n.-147-616A>G | |
| XM_005263194.2:c.-162-601A>G | XP_005263251.1:n.-162-601A>G | |
| XM_005263195.2:c.-88-616A>G | XP_005263252.1:n.-88-616A>G | |
| XM_005263196.2:c.-128-635A>G | XP_005263253.1:n.-128-635A>G | |
| XM_005263197.2:c.-103-601A>G | XP_005263254.1:n.-103-601A>G | |
| XM_011532215.1:c.-69-635A>G | XP_011530517.1:n.-69-635A>G | |
| XM_011532216.1:c.-17+2941A>G | XP_011530518.1:n.-17+2941A>G | |
| NM_001318787.1:c.-372-616A>G | NP_001305716.1:n.-372-616A>G | |
| NM_001318789.1:c.-162-601A>G | NP_001305718.1:n.-162-601A>G | |
| NM_001318790.1:c.-162-601A>G | NP_001305719.1:n.-162-601A>G | |
| NM_001318791.1:c.-128-635A>G | NP_001305720.1:n.-128-635A>G | |
| NM_001318793.1:c.-147-616A>G | NP_001305722.1:n.-147-616A>G | |
| NM_001318795.1:c.-103-601A>G | NP_001305724.1:n.-103-601A>G | |
| NM_001318796.1:c.-88-616A>G | NP_001305725.1:n.-88-616A>G | |
| NM_003264.4:c.-147-616A>G | NP_003255.2:n.-147-616A>G | |
| XM_011532215.2:c.-69-635A>G | XP_011530517.1:n.-69-635A>G | |
| XM_011532216.2:c.-17+2941A>G | XP_011530518.1:n.-17+2941A>G | |
| XM_017008573.1:c.-446-601A>G | XP_016864062.1:n.-446-601A>G | |
| XM_017008574.1:c.-297-601A>G | XP_016864063.1:n.-297-601A>G | |
| XM_017008575.1:c.-341-616A>G | XP_016864064.1:n.-341-616A>G | |
| NM_001318787.2:c.-372-616A>G | NP_001305716.1:n.-372-616A>G | |
| NM_001318789.2:c.-162-601A>G MANE Select | NP_001305718.1:n.-162-601A>G | |
| NM_001318790.2:c.-162-601A>G | NP_001305719.1:n.-162-601A>G | |
| NM_001318791.2:c.-128-635A>G | NP_001305720.1:n.-128-635A>G | |
| NM_001318793.2:c.-147-616A>G | NP_001305722.1:n.-147-616A>G | |
| NM_001318795.2:c.-103-601A>G | NP_001305724.1:n.-103-601A>G | |
| NM_001318796.2:c.-88-616A>G | NP_001305725.1:n.-88-616A>G | |
| NM_003264.5:c.-147-616A>G | NP_003255.2:n.-147-616A>G |