Linked Data
ClinVar Variation Id:
322820
dbSNP Id:
rs886052861
gnomAD v2:
17-3539991-G-T
gnomAD v3:
17-3636697-G-T
gnomAD v4:
17-3636697-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3636697G>T , CM000679.2:g.3636697G>T | GRCh38 |
| NC_000017.10:g.3539991G>T , CM000679.1:g.3539991G>T | GRCh37 |
| NC_000017.9:g.3486740G>T | NCBI36 |
| NG_012489.1:g.5230G>T | |
| NG_052852.1:g.4626C>A | |
| NG_012489.2:g.5230G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381870.8:c.-241G>T | ENSP00000371294.3:n.-241G>T | |
| ENST00000673965.1:c.-236G>T | ENSP00000500995.1:n.-236G>T | |
| ENST00000046640.7:c.-364G>T | ENSP00000046640.3:n.-364G>T | |
| ENST00000381870.7:c.-241G>T | ENSP00000371294.3:n.-241G>T | |
| NM_001031681.2:c.-241G>T | NP_001026851.2:n.-241G>T | |
| NM_004937.2:c.-364G>T | NP_004928.2:n.-364G>T | |
| XM_005256485.1:c.-364G>T | XP_005256542.1:n.-364G>T | |
| XM_006721463.1:c.-236G>T | XP_006721526.1:n.-236G>T | |
| XM_006721464.1:c.-720G>T | XP_006721527.1:n.-720G>T | |
| XM_011523692.1:c.-725G>T | XP_011521994.1:n.-725G>T | |
| XR_934003.1:n.230G>T | ||
| XM_005256485.3:c.-364G>T | XP_005256542.1:n.-364G>T | |
| XM_006721463.3:c.-236G>T | XP_006721526.1:n.-236G>T | |
| XM_006721464.2:c.-720G>T | XP_006721527.1:n.-720G>T | |
| XM_011523692.2:c.-725G>T | XP_011521994.1:n.-725G>T | |
| XM_017024254.1:c.-641G>T | XP_016879743.1:n.-641G>T | |
| XM_017024255.1:c.-720G>T | XP_016879744.1:n.-720G>T | |
| XM_017024256.1:c.-725G>T | XP_016879745.1:n.-725G>T | |
| XM_017024257.1:c.-641G>T | XP_016879746.1:n.-641G>T | |
| XM_017024258.1:c.-640G>T | XP_016879747.1:n.-640G>T | |
| NM_001031681.3:c.-241G>T | NP_001026851.2:n.-241G>T |