Linked Data
ClinVar Variation Id:
2263544
ClinVar RCV Id:
RCV002797979
dbSNP Id:
rs374889836
ExAC:
17:40939491 C / T
gnomAD v2:
17-40939491-C-T
gnomAD v3:
17-42787473-C-T
gnomAD v4:
17-42787473-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42787473C>T , CM000679.2:g.42787473C>T | GRCh38 |
| NC_000017.10:g.40939491C>T , CM000679.1:g.40939491C>T | GRCh37 |
| NC_000017.9:g.38193017C>T | NCBI36 |
| NG_016227.1:g.11843C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246914.10:c.1672C>T MANE Select | ENSP00000246914.4:p.Pro558Ser | |
| ENST00000246914.9:c.1672C>T | ENSP00000246914.4:p.Pro558Ser | |
| ENST00000587705.5:n.352C>T | ||
| ENST00000591448.5:c.*173C>T | ENSP00000467088.1:n.*173C>T | |
| ENST00000592072.1:n.352C>T | ||
| NM_032387.4:c.1672C>T | NP_115763.2:p.Pro558Ser | |
| XM_005257595.3:c.1672C>T | XP_005257652.1:p.Pro558Ser | |
| XM_005257596.2:c.1672C>T | XP_005257653.1:p.Pro558Ser | |
| XM_005257597.3:c.1672C>T | XP_005257654.1:p.Pro558Ser | |
| XM_006722020.2:c.1672C>T | XP_006722083.1:p.Pro558Ser | |
| XM_006722021.1:c.664C>T | XP_006722084.1:p.Pro222Ser | |
| XM_006722022.1:c.664C>T | XP_006722085.1:p.Pro222Ser | |
| XM_011525132.1:c.1672C>T | XP_011523434.1:p.Pro558Ser | |
| XM_011525133.1:c.1672C>T | XP_011523435.1:p.Pro558Ser | |
| XM_011525134.1:c.1672C>T | XP_011523436.1:p.Pro558Ser | |
| XM_011525135.1:c.1672C>T | XP_011523437.1:p.Pro558Ser | |
| NM_001321299.1:c.664C>T | NP_001308228.1:p.Pro222Ser | |
| XM_017024962.1:c.1672C>T | XP_016880451.1:p.Pro558Ser | |
| XM_017024966.1:c.664C>T | XP_016880455.1:p.Pro222Ser | |
| NM_032387.5:c.1672C>T MANE Select | NP_115763.2:p.Pro558Ser | |
| NM_001321299.2:c.664C>T | NP_001308228.1:p.Pro222Ser |