Linked Data
ClinVar Variation Id:
375698
ClinVar RCV Id:
RCV000417204
dbSNP Id:
rs193922736
PubMed:
PMID:22073419
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42787491G>C , CM000679.2:g.42787491G>C | GRCh38 |
| NC_000017.10:g.40939509G>C , CM000679.1:g.40939509G>C | GRCh37 |
| NC_000017.9:g.38193035G>C | NCBI36 |
| NG_016227.1:g.11861G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246914.10:c.1690G>C MANE Select | ENSP00000246914.4:p.Asp564His | |
| ENST00000246914.9:c.1690G>C | ENSP00000246914.4:p.Asp564His | |
| ENST00000587705.5:n.370G>C | ||
| ENST00000591448.5:c.*191G>C | ENSP00000467088.1:n.*191G>C | |
| ENST00000592072.1:n.370G>C | ||
| NM_032387.4:c.1690G>C | NP_115763.2:p.Asp564His | |
| XM_005257595.3:c.1690G>C | XP_005257652.1:p.Asp564His | |
| XM_005257596.2:c.1690G>C | XP_005257653.1:p.Asp564His | |
| XM_005257597.3:c.1690G>C | XP_005257654.1:p.Asp564His | |
| XM_006722020.2:c.1690G>C | XP_006722083.1:p.Asp564His | |
| XM_006722021.1:c.682G>C | XP_006722084.1:p.Asp228His | |
| XM_006722022.1:c.682G>C | XP_006722085.1:p.Asp228His | |
| XM_011525132.1:c.1690G>C | XP_011523434.1:p.Asp564His | |
| XM_011525133.1:c.1690G>C | XP_011523435.1:p.Asp564His | |
| XM_011525134.1:c.1690G>C | XP_011523436.1:p.Asp564His | |
| XM_011525135.1:c.1690G>C | XP_011523437.1:p.Asp564His | |
| NM_001321299.1:c.682G>C | NP_001308228.1:p.Asp228His | |
| XM_017024962.1:c.1690G>C | XP_016880451.1:p.Asp564His | |
| XM_017024966.1:c.682G>C | XP_016880455.1:p.Asp228His | |
| NM_032387.5:c.1690G>C MANE Select | NP_115763.2:p.Asp564His | |
| NM_001321299.2:c.682G>C | NP_001308228.1:p.Asp228His |