Linked Data
ClinVar Variation Id:
440996
ClinVar RCV Id:
RCV000509141
dbSNP Id:
rs745561575
ExAC:
3:135913883 G / A
gnomAD v2:
3-135913883-G-A
gnomAD v4:
3-136195041-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136195041G>A , CM000665.2:g.136195041G>A | GRCh38 |
| NC_000003.11:g.135913883G>A , CM000665.1:g.135913883G>A | GRCh37 |
| NC_000003.10:g.137396573G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473093.2:c.-81+1109C>T | ENSP00000418655.2:n.-81+1109C>T | |
| ENST00000481989.2:c.-81+2168C>T | ENSP00000418752.2:n.-81+2168C>T | |
| ENST00000491050.2:c.-81+1517C>T | ENSP00000417956.2:n.-81+1517C>T | |
| ENST00000703103.1:c.-81+1423C>T | ENSP00000515170.1:n.-81+1423C>T | |
| ENST00000703104.1:c.-81+1531C>T | ENSP00000515171.1:n.-81+1531C>T | |
| ENST00000703105.1:c.130+1542C>T | ENSP00000515172.1:n.130+1542C>T | |
| ENST00000309993.3:c.73C>T MANE Select | ENSP00000311827.2:p.Pro25Ser | |
| ENST00000309993.2:c.73C>T | ENSP00000311827.2:p.Pro25Ser | |
| ENST00000473093.1:c.-81+1109C>T | ENSP00000418655.1:n.-81+1109C>T | |
| ENST00000481989.1:c.-81+2168C>T | ENSP00000418752.1:n.-81+2168C>T | |
| ENST00000491050.1:c.-81+1517C>T | ENSP00000417956.1:n.-81+1517C>T | |
| NM_018133.3:c.73C>T | NP_060603.2:p.Pro25Ser | |
| XM_005247572.2:c.-81+1531C>T | XP_005247629.1:n.-81+1531C>T | |
| XM_006713684.2:c.-81+2168C>T | XP_006713747.1:n.-81+2168C>T | |
| XM_011512949.1:c.-81+1109C>T | XP_011511251.1:n.-81+1109C>T | |
| XM_006713684.3:c.-81+2168C>T | XP_006713747.1:n.-81+2168C>T | |
| XM_011512949.2:c.-81+1109C>T | XP_011511251.1:n.-81+1109C>T | |
| NM_018133.4:c.73C>T MANE Select | NP_060603.2:p.Pro25Ser |