Linked Data
ClinVar Variation Id:
322823
dbSNP Id:
rs534368692
gnomAD v2:
17-3540083-A-C
gnomAD v3:
17-3636789-A-C
gnomAD v4:
17-3636789-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3636789A>C , CM000679.2:g.3636789A>C | GRCh38 |
| NC_000017.10:g.3540083A>C , CM000679.1:g.3540083A>C | GRCh37 |
| NC_000017.9:g.3486832A>C | NCBI36 |
| NG_012489.1:g.5322A>C | |
| NG_052852.1:g.4534T>G | |
| NG_012489.2:g.5322A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000046640.9:c.-272A>C MANE Select | ENSP00000046640.4:n.-272A>C | |
| ENST00000381870.8:c.-230+81A>C | ENSP00000371294.3:n.-230+81A>C | |
| ENST00000488623.6:c.-919A>C | ENSP00000501016.1:n.-919A>C | |
| ENST00000574776.6:c.-445A>C | ENSP00000461118.2:n.-445A>C | |
| ENST00000673669.1:c.-548A>C | ENSP00000501123.1:n.-548A>C | |
| ENST00000673965.1:c.-230+86A>C | ENSP00000500995.1:n.-230+86A>C | |
| ENST00000046640.7:c.-272A>C | ENSP00000046640.3:n.-272A>C | |
| ENST00000381870.7:c.-230+81A>C | ENSP00000371294.3:n.-230+81A>C | |
| ENST00000452111.5:c.-328A>C | ENSP00000408652.1:n.-328A>C | |
| ENST00000467663.5:c.-272A>C | ENSP00000461056.1:n.-272A>C | |
| ENST00000488623.5:n.30A>C | ||
| ENST00000495445.5:n.43A>C | ||
| ENST00000574218.1:c.-469A>C | ENSP00000458912.1:n.-469A>C | |
| ENST00000574776.5:c.-445A>C | ENSP00000461118.1:n.-445A>C | |
| NM_001031681.2:c.-230+81A>C | NP_001026851.2:n.-230+81A>C | |
| NM_004937.2:c.-272A>C | NP_004928.2:n.-272A>C | |
| XM_005256485.1:c.-272A>C | XP_005256542.1:n.-272A>C | |
| XM_006721463.1:c.-230+86A>C | XP_006721526.1:n.-230+86A>C | |
| XM_006721464.1:c.-628A>C | XP_006721527.1:n.-628A>C | |
| XM_011523691.1:c.-328A>C | XP_011521993.1:n.-328A>C | |
| XM_011523692.1:c.-633A>C | XP_011521994.1:n.-633A>C | |
| XR_934003.1:n.322A>C | ||
| XM_005256485.3:c.-272A>C | XP_005256542.1:n.-272A>C | |
| XM_006721463.3:c.-230+86A>C | XP_006721526.1:n.-230+86A>C | |
| XM_006721464.2:c.-628A>C | XP_006721527.1:n.-628A>C | |
| XM_011523691.2:c.-328A>C | XP_011521993.1:n.-328A>C | |
| XM_011523692.2:c.-633A>C | XP_011521994.1:n.-633A>C | |
| XM_017024254.1:c.-549A>C | XP_016879743.1:n.-549A>C | |
| XM_017024255.1:c.-628A>C | XP_016879744.1:n.-628A>C | |
| XM_017024256.1:c.-633A>C | XP_016879745.1:n.-633A>C | |
| XM_017024257.1:c.-549A>C | XP_016879746.1:n.-549A>C | |
| XM_017024258.1:c.-548A>C | XP_016879747.1:n.-548A>C | |
| NM_001374492.1:c.-272A>C | NP_001361421.1:n.-272A>C | |
| NM_001374493.1:c.-628A>C | NP_001361422.1:n.-628A>C | |
| NM_001374494.1:c.-633A>C | NP_001361423.1:n.-633A>C | |
| NM_001374495.1:c.-549A>C | NP_001361424.1:n.-549A>C | |
| NM_001374496.1:c.-548A>C | NP_001361425.1:n.-548A>C | |
| NM_004937.3:c.-272A>C MANE Select | NP_004928.2:n.-272A>C | |
| NM_001031681.3:c.-230+81A>C | NP_001026851.2:n.-230+81A>C |