Linked Data
ClinVar Variation Id:
322816
dbSNP Id:
rs530371788
gnomAD v2:
17-3539858-C-T
gnomAD v3:
17-3636564-C-T
gnomAD v4:
17-3636564-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3636564C>T , CM000679.2:g.3636564C>T | GRCh38 |
| NC_000017.10:g.3539858C>T , CM000679.1:g.3539858C>T | GRCh37 |
| NC_000017.9:g.3486607C>T | NCBI36 |
| NG_012489.1:g.5097C>T | |
| NG_052852.1:g.4759G>A | |
| NG_012489.2:g.5097C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381870.8:c.-374C>T | ENSP00000371294.3:n.-374C>T | |
| ENST00000673965.1:c.-369C>T | ENSP00000500995.1:n.-369C>T | |
| ENST00000046640.7:c.-497C>T | ENSP00000046640.3:n.-497C>T | |
| ENST00000381870.7:c.-374C>T | ENSP00000371294.3:n.-374C>T | |
| NM_001031681.2:c.-374C>T | NP_001026851.2:n.-374C>T | |
| NM_004937.2:c.-497C>T | NP_004928.2:n.-497C>T | |
| XM_005256485.1:c.-497C>T | XP_005256542.1:n.-497C>T | |
| XM_006721463.1:c.-369C>T | XP_006721526.1:n.-369C>T | |
| XM_006721464.1:c.-853C>T | XP_006721527.1:n.-853C>T | |
| XM_011523692.1:c.-858C>T | XP_011521994.1:n.-858C>T | |
| XR_934003.1:n.97C>T | ||
| XM_005256485.3:c.-497C>T | XP_005256542.1:n.-497C>T | |
| XM_006721463.3:c.-369C>T | XP_006721526.1:n.-369C>T | |
| XM_006721464.2:c.-853C>T | XP_006721527.1:n.-853C>T | |
| XM_011523692.2:c.-858C>T | XP_011521994.1:n.-858C>T | |
| XM_017024254.1:c.-774C>T | XP_016879743.1:n.-774C>T | |
| XM_017024255.1:c.-853C>T | XP_016879744.1:n.-853C>T | |
| XM_017024256.1:c.-858C>T | XP_016879745.1:n.-858C>T | |
| XM_017024257.1:c.-774C>T | XP_016879746.1:n.-774C>T | |
| XM_017024258.1:c.-773C>T | XP_016879747.1:n.-773C>T | |
| NM_001031681.3:c.-374C>T | NP_001026851.2:n.-374C>T |