Linked Data
ClinVar Variation Id:
322842
dbSNP Id:
rs142641674
ExAC:
17:3561312 G / A
gnomAD v2:
17-3561312-G-A
gnomAD v3:
17-3658018-G-A
gnomAD v4:
17-3658018-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3658018G>A , CM000679.2:g.3658018G>A | GRCh38 |
| NC_000017.10:g.3561312G>A , CM000679.1:g.3561312G>A | GRCh37 |
| NC_000017.9:g.3508061G>A | NCBI36 |
| NG_012489.1:g.26551G>A | |
| NG_012489.2:g.26551G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000046640.9:c.695G>A MANE Select | ENSP00000046640.4:p.Arg232His | |
| ENST00000381870.8:c.695G>A | ENSP00000371294.3:p.Arg232His | |
| ENST00000488623.6:c.-59G>A | ENSP00000501016.1:n.-59G>A | |
| ENST00000574776.6:c.254G>A | ENSP00000461118.2:p.Arg85His | |
| ENST00000673669.1:c.254G>A | ENSP00000501123.1:p.Arg85His | |
| ENST00000673965.1:c.695G>A | ENSP00000500995.1:p.Arg232His | |
| ENST00000046640.7:c.695G>A | ENSP00000046640.3:p.Arg232His | |
| ENST00000381870.7:c.695G>A | ENSP00000371294.3:p.Arg232His | |
| NM_001031681.2:c.695G>A | NP_001026851.2:p.Arg232His | |
| NM_004937.2:c.695G>A | NP_004928.2:p.Arg232His | |
| XM_005256485.1:c.695G>A | XP_005256542.1:p.Arg232His | |
| XM_006721463.1:c.695G>A | XP_006721526.1:p.Arg232His | |
| XM_006721464.1:c.254G>A | XP_006721527.1:p.Arg85His | |
| XM_011523691.1:c.695G>A | XP_011521993.1:p.Arg232His | |
| XM_011523692.1:c.254G>A | XP_011521994.1:p.Arg85His | |
| XR_934003.1:n.1288G>A | ||
| XM_005256485.3:c.695G>A | XP_005256542.1:p.Arg232His | |
| XM_006721463.3:c.695G>A | XP_006721526.1:p.Arg232His | |
| XM_006721464.2:c.254G>A | XP_006721527.1:p.Arg85His | |
| XM_011523691.2:c.695G>A | XP_011521993.1:p.Arg232His | |
| XM_011523692.2:c.254G>A | XP_011521994.1:p.Arg85His | |
| XM_017024254.1:c.254G>A | XP_016879743.1:p.Arg85His | |
| XM_017024255.1:c.254G>A | XP_016879744.1:p.Arg85His | |
| XM_017024256.1:c.254G>A | XP_016879745.1:p.Arg85His | |
| XM_017024257.1:c.254G>A | XP_016879746.1:p.Arg85His | |
| XM_017024258.1:c.254G>A | XP_016879747.1:p.Arg85His | |
| NM_001374492.1:c.695G>A | NP_001361421.1:p.Arg232His | |
| NM_001374493.1:c.254G>A | NP_001361422.1:p.Arg85His | |
| NM_001374494.1:c.254G>A | NP_001361423.1:p.Arg85His | |
| NM_001374495.1:c.254G>A | NP_001361424.1:p.Arg85His | |
| NM_001374496.1:c.254G>A | NP_001361425.1:p.Arg85His | |
| NM_004937.3:c.695G>A MANE Select | NP_004928.2:p.Arg232His | |
| NM_001031681.3:c.695G>A | NP_001026851.2:p.Arg232His |