Linked Data
ClinVar Variation Id:
134313
dbSNP Id:
rs147523071
ExAC:
3:10103845 C / T
gnomAD v2:
3-10103845-C-T
gnomAD v3:
3-10062161-C-T
gnomAD v4:
3-10062161-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10062161C>T , CM000665.2:g.10062161C>T | GRCh38 |
| NC_000003.11:g.10103845C>T , CM000665.1:g.10103845C>T | GRCh37 |
| NC_000003.10:g.10078845C>T | NCBI36 |
| NG_007311.1:g.40733C>T , LRG_306:g.40733C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681997.1:n.861C>T | ||
| ENST00000682647.1:c.*1697C>T | ENSP00000506736.1:n.*1697C>T | |
| ENST00000683263.1:n.776C>T | ||
| ENST00000675286.1:c.1777C>T MANE Select | ENSP00000502379.1:p.Pro593Ser | |
| ENST00000676013.1:c.1666C>T | ENSP00000501999.1:p.Pro556Ser | |
| ENST00000287647.7:c.1777C>T | ENSP00000287647.3:p.Pro593Ser | |
| ENST00000383807.5:c.1777C>T | ENSP00000373318.1:p.Pro593Ser | |
| ENST00000419585.5:c.1777C>T | ENSP00000398754.1:p.Pro593Ser | |
| ENST00000421731.5:c.276C>T | ||
| NM_001018115.1:c.1777C>T , LRG_306t1:c.1777C>T | NP_001018125.1:p.Pro593Ser | |
| NM_033084.3:c.1777C>T , LRG_306t2:c.1777C>T | NP_149075.2:p.Pro593Ser | |
| XM_005264946.2:c.1777C>T | XP_005265003.1:p.Pro593Ser | |
| XM_005264947.2:c.-145C>T | XP_005265004.1:n.-145C>T | |
| XM_006713021.2:c.1777C>T | XP_006713084.1:p.Pro593Ser | |
| XM_006713023.2:c.1777C>T | XP_006713086.1:p.Pro593Ser | |
| XM_006713024.2:c.1777C>T | XP_006713087.1:p.Pro593Ser | |
| XM_011533479.1:c.1777C>T | XP_011531781.1:p.Pro593Ser | |
| XM_011533480.1:c.628C>T | XP_011531782.1:p.Pro210Ser | |
| XR_940391.1:n.1897C>T | ||
| NM_001018115.2:c.1777C>T | NP_001018125.1:p.Pro593Ser | |
| NM_001319984.1:c.1777C>T | NP_001306913.1:p.Pro593Ser | |
| NM_033084.4:c.1777C>T | NP_149075.2:p.Pro593Ser | |
| NM_001018115.3:c.1777C>T MANE Select | NP_001018125.1:p.Pro593Ser | |
| NM_001319984.2:c.1777C>T | NP_001306913.1:p.Pro593Ser | |
| NM_001374253.1:c.1666C>T | NP_001361182.1:p.Pro556Ser | |
| NM_001374254.1:c.1777C>T | NP_001361183.1:p.Pro593Ser | |
| NM_033084.6:c.1777C>T | NP_149075.2:p.Pro593Ser |