Linked Data
ClinVar Variation Id:
507519
ClinVar RCV Id:
RCV000611132
dbSNP Id:
rs1357194571
gnomAD v2:
1-161172131-T-C
gnomAD v4:
1-161202341-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161202341T>C , CM000663.2:g.161202341T>C | GRCh38 |
| NC_000001.10:g.161172131T>C , CM000663.1:g.161172131T>C | GRCh37 |
| NC_000001.9:g.159438755T>C | NCBI36 |
| NG_013352.1:g.8027T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392179.5:c.-45T>C | ENSP00000376018.4:n.-45T>C | |
| ENST00000467295.6:n.484T>C | ||
| ENST00000493849.6:n.55T>C | ||
| ENST00000496553.6:n.661T>C | ||
| ENST00000676535.1:n.259T>C | ||
| ENST00000676583.1:c.-45T>C | ENSP00000503681.1:n.-45T>C | |
| ENST00000676600.1:c.-45T>C | ENSP00000503989.1:n.-45T>C | |
| ENST00000676653.1:n.272T>C | ||
| ENST00000676726.1:n.55T>C | ||
| ENST00000676871.1:n.55T>C | ||
| ENST00000676991.1:n.676T>C | ||
| ENST00000677045.1:c.-45T>C | ENSP00000504168.1:n.-45T>C | |
| ENST00000677050.1:n.55T>C | ||
| ENST00000677063.1:c.-45T>C | ENSP00000504572.1:n.-45T>C | |
| ENST00000677081.1:c.-45T>C | ENSP00000503728.1:n.-45T>C | |
| ENST00000677138.1:c.-45T>C | ENSP00000504839.1:n.-45T>C | |
| ENST00000677178.1:n.259T>C | ||
| ENST00000677231.1:c.-45T>C | ENSP00000503378.1:n.-45T>C | |
| ENST00000677350.1:n.259T>C | ||
| ENST00000677383.1:n.259T>C | ||
| ENST00000677453.1:c.-45T>C | ENSP00000503604.1:n.-45T>C | |
| ENST00000677457.1:c.-45T>C | ENSP00000503294.1:n.-45T>C | |
| ENST00000677495.1:n.55T>C | ||
| ENST00000677547.1:c.-45T>C | ENSP00000504269.1:n.-45T>C | |
| ENST00000677550.1:c.-45T>C | ENSP00000503353.1:n.-45T>C | |
| ENST00000677577.1:n.55T>C | ||
| ENST00000677579.1:c.-45T>C | ENSP00000504162.1:n.-45T>C | |
| ENST00000677613.1:c.-45T>C | ENSP00000504258.1:n.-45T>C | |
| ENST00000677653.1:c.-45T>C | ENSP00000504542.1:n.-45T>C | |
| ENST00000677657.1:n.55T>C | ||
| ENST00000677736.1:n.55T>C | ||
| ENST00000677807.1:n.259T>C | ||
| ENST00000677809.1:n.259T>C | ||
| ENST00000677846.1:c.-45T>C | ENSP00000504065.1:n.-45T>C | |
| ENST00000677916.1:n.55T>C | ||
| ENST00000677925.1:n.259T>C | ||
| ENST00000678052.1:n.259T>C | ||
| ENST00000678130.1:n.667T>C | ||
| ENST00000678328.1:n.55T>C | ||
| ENST00000678484.1:n.55T>C | ||
| ENST00000678492.1:n.259T>C | ||
| ENST00000678507.1:c.-45T>C | ENSP00000504199.1:n.-45T>C | |
| ENST00000678511.1:c.-17-28T>C | ENSP00000504846.1:n.-17-28T>C | |
| ENST00000678605.1:c.-45T>C | ENSP00000503969.1:n.-45T>C | |
| ENST00000678613.1:n.259T>C | ||
| ENST00000678783.1:c.-45T>C | ENSP00000504215.1:n.-45T>C | |
| ENST00000678793.1:c.-45T>C | ENSP00000503431.1:n.-45T>C | |
| ENST00000678850.1:n.55T>C | ||
| ENST00000678911.1:c.-45T>C | ENSP00000503946.1:n.-45T>C | |
| ENST00000678966.1:n.259T>C | ||
| ENST00000678982.1:c.-45T>C | ENSP00000504597.1:n.-45T>C | |
| ENST00000679064.1:c.-45T>C | ENSP00000502868.1:n.-45T>C | |
| ENST00000679176.1:c.-45T>C | ENSP00000504170.1:n.-45T>C | |
| ENST00000679215.1:n.259T>C | ||
| ENST00000679239.1:c.-45T>C | ENSP00000504555.1:n.-45T>C | |
| ENST00000679282.1:c.-45T>C | ENSP00000504533.1:n.-45T>C | |
| ENST00000367993.7:c.-45T>C | ENSP00000356972.3:n.-45T>C | |
| ENST00000392179.4:c.-45T>C | ENSP00000376018.4:n.-45T>C | |
| ENST00000479948.5:n.248T>C | ||
| ENST00000496133.5:n.264T>C | ||
| ENST00000496553.5:n.296T>C | ||
| NM_001166159.1:c.-45T>C | NP_001159631.1:n.-45T>C | |
| NM_004550.4:c.-45T>C | NP_004541.1:n.-45T>C | |
| XM_005245208.1:c.-45T>C | XP_005245265.1:n.-45T>C | |
| XM_005245209.2:c.-232T>C | XP_005245266.1:n.-232T>C | |
| NM_001377298.1:c.-45T>C | NP_001364227.1:n.-45T>C | |
| NM_001377300.1:c.-45T>C | NP_001364229.1:n.-45T>C | |
| NM_001377301.1:c.-45T>C | NP_001364230.1:n.-45T>C | |
| NM_004550.5:c.-45T>C | NP_004541.1:n.-45T>C |