Linked Data
dbSNP Id:
rs62323827
gnomAD v2:
4-154605468-C-T
gnomAD v3:
4-153684316-C-T
gnomAD v4:
4-153684316-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.153684316C>T , CM000666.2:g.153684316C>T | GRCh38 |
| NC_000004.11:g.154605468C>T , CM000666.1:g.154605468C>T | GRCh37 |
| NC_000004.10:g.154824918C>T | NCBI36 |
| NG_016229.1:g.5028C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643501.2:c.-417C>T | ENSP00000496208.2:n.-417C>T | |
| ENST00000646219.2:c.-491C>T | ENSP00000496676.2:n.-491C>T | |
| ENST00000646900.2:c.-192C>T | ENSP00000493968.2:n.-192C>T | |
| ENST00000642580.1:c.-133C>T | ENSP00000495339.1:n.-133C>T | |
| ENST00000642700.2:c.-207C>T MANE Select | ENSP00000494425.1:n.-207C>T | |
| ENST00000643501.1:c.-417C>T | ENSP00000496208.1:n.-417C>T | |
| ENST00000645889.1:n.27C>T | ||
| ENST00000646219.1:c.-491C>T | ENSP00000496676.1:n.-491C>T | |
| ENST00000646900.1:c.-192C>T | ENSP00000493968.1:n.-192C>T | |
| NM_003264.3:c.-192C>T | NP_003255.2:n.-192C>T | |
| XM_005263194.2:c.-207C>T | XP_005263251.1:n.-207C>T | |
| XM_005263195.2:c.-133C>T | XP_005263252.1:n.-133C>T | |
| XM_005263196.2:c.-173C>T | XP_005263253.1:n.-173C>T | |
| XM_005263197.2:c.-148C>T | XP_005263254.1:n.-148C>T | |
| XM_011532215.1:c.-114C>T | XP_011530517.1:n.-114C>T | |
| XM_011532216.1:c.-61C>T | XP_011530518.1:n.-61C>T | |
| NM_001318787.1:c.-417C>T | NP_001305716.1:n.-417C>T | |
| NM_001318789.1:c.-207C>T | NP_001305718.1:n.-207C>T | |
| NM_001318790.1:c.-184C>T | NP_001305719.1:n.-184C>T | |
| NM_001318791.1:c.-173C>T | NP_001305720.1:n.-173C>T | |
| NM_001318793.1:c.-169C>T | NP_001305722.1:n.-169C>T | |
| NM_001318795.1:c.-148C>T | NP_001305724.1:n.-148C>T | |
| NM_001318796.1:c.-133C>T | NP_001305725.1:n.-133C>T | |
| NM_003264.4:c.-192C>T | NP_003255.2:n.-192C>T | |
| XM_011532215.2:c.-114C>T | XP_011530517.1:n.-114C>T | |
| XM_011532216.2:c.-61C>T | XP_011530518.1:n.-61C>T | |
| XM_017008573.1:c.-491C>T | XP_016864062.1:n.-491C>T | |
| XM_017008574.1:c.-342C>T | XP_016864063.1:n.-342C>T | |
| XM_017008575.1:c.-386C>T | XP_016864064.1:n.-386C>T | |
| NM_001318787.2:c.-417C>T | NP_001305716.1:n.-417C>T | |
| NM_001318789.2:c.-207C>T MANE Select | NP_001305718.1:n.-207C>T | |
| NM_001318790.2:c.-184C>T | NP_001305719.1:n.-184C>T | |
| NM_001318791.2:c.-173C>T | NP_001305720.1:n.-173C>T | |
| NM_001318793.2:c.-169C>T | NP_001305722.1:n.-169C>T | |
| NM_001318795.2:c.-148C>T | NP_001305724.1:n.-148C>T | |
| NM_001318796.2:c.-133C>T | NP_001305725.1:n.-133C>T | |
| NM_003264.5:c.-192C>T | NP_003255.2:n.-192C>T |