Linked Data
ClinVar Variation Id:
2525501
ClinVar RCV Id:
RCV003274988
dbSNP Id:
rs770956031
ExAC:
3:46021222 A / G
gnomAD v2:
3-46021222-A-G
gnomAD v3:
3-45979730-A-G
gnomAD v4:
3-45979730-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45979730A>G , CM000665.2:g.45979730A>G | GRCh38 |
| NC_000003.11:g.46021222A>G , CM000665.1:g.46021222A>G | GRCh37 |
| NC_000003.10:g.45996226A>G | NCBI36 |
| NG_031955.1:g.21095T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296137.7:c.263T>C MANE Select | ENSP00000296137.2:p.Ile88Thr | |
| ENST00000296137.6:c.263T>C | ENSP00000296137.2:p.Ile88Thr | |
| ENST00000535325.5:c.263T>C | ENSP00000441178.1:p.Ile88Thr | |
| NM_024513.3:c.263T>C | NP_078789.2:p.Ile88Thr | |
| XM_006713333.2:c.263T>C | XP_006713396.1:p.Ile88Thr | |
| XM_006713334.2:c.263T>C | XP_006713397.1:p.Ile88Thr | |
| XM_011534111.1:c.263T>C | XP_011532413.1:p.Ile88Thr | |
| XM_011534112.1:c.263T>C | XP_011532414.1:p.Ile88Thr | |
| XR_245157.1:n.478T>C | ||
| XM_006713333.3:c.263T>C | XP_006713396.1:p.Ile88Thr | |
| XM_006713334.3:c.263T>C | XP_006713397.1:p.Ile88Thr | |
| XM_011534111.3:c.263T>C | XP_011532413.1:p.Ile88Thr | |
| XR_001740265.1:n.478T>C | ||
| NM_024513.4:c.263T>C MANE Select | NP_078789.2:p.Ile88Thr | |
| NM_001386421.1:c.263T>C | NP_001373350.1:p.Ile88Thr | |
| NM_001386422.1:c.263T>C | NP_001373351.1:p.Ile88Thr | |
| NM_001386423.1:c.263T>C | NP_001373352.1:p.Ile88Thr | |
| NM_001386424.1:c.263T>C | NP_001373353.1:p.Ile88Thr | |
| NM_001386425.1:c.263T>C | NP_001373354.1:p.Ile88Thr | |
| NM_001386426.1:c.143T>C | NP_001373355.1:p.Ile48Thr | |
| NM_001386427.1:c.263T>C | NP_001373356.1:p.Ile88Thr | |
| NM_001386428.1:c.263T>C | NP_001373357.1:p.Ile88Thr | |
| NM_001386429.1:c.263T>C | NP_001373358.1:p.Ile88Thr | |
| NM_001386430.1:c.-62+5126T>C | NP_001373359.1:n.-62+5126T>C | |
| NR_170107.1:n.478T>C |