Linked Data
ClinVar Variation Id:
242837
ClinVar RCV Id:
RCV000234889
dbSNP Id:
rs1057519023
gnomAD v4:
3-155116987-G-A
COSMIC:
COSM1420149
PubMed:
PMID:26991897
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.155116987G>A , CM000665.2:g.155116987G>A | GRCh38 |
| NC_000003.11:g.154834776G>A , CM000665.1:g.154834776G>A | GRCh37 |
| NC_000003.10:g.156317470G>A | NCBI36 |
| NG_051105.1:g.97864G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360490.7:c.654+1G>A MANE Select | ENSP00000353679.2:n.654+1G>A | |
| ENST00000460393.6:c.654+1G>A | ENSP00000418525.1:n.654+1G>A | |
| ENST00000473730.6:c.654+1G>A | ENSP00000420542.2:n.654+1G>A | |
| ENST00000491026.6:c.654+1G>A | ENSP00000418791.2:n.654+1G>A | |
| ENST00000615825.2:c.654+1G>A | ENSP00000478173.2:n.654+1G>A | |
| ENST00000675418.2:c.654+1G>A | ENSP00000502021.2:n.654+1G>A | |
| ENST00000679362.1:n.497+1G>A | ||
| ENST00000680057.1:c.654+1G>A | ENSP00000505211.1:n.654+1G>A | |
| ENST00000680282.1:c.654+1G>A | ENSP00000505690.1:n.654+1G>A | |
| ENST00000360490.6:c.654+1G>A | ENSP00000353679.2:n.654+1G>A | |
| ENST00000460393.5:c.654+1G>A | ENSP00000418525.1:n.654+1G>A | |
| ENST00000462745.5:c.654+1G>A | ENSP00000419653.1:n.654+1G>A | |
| ENST00000481828.5:c.654+1G>A | ENSP00000420101.1:n.654+1G>A | |
| ENST00000492661.5:c.654+1G>A | ENSP00000420389.1:n.654+1G>A | |
| ENST00000493237.5:c.654+1G>A | ENSP00000417079.1:n.654+1G>A | |
| ENST00000615825.1:c.654+1G>A | ENSP00000478173.1:n.654+1G>A | |
| NM_000902.3:c.654+1G>A | NP_000893.2:n.654+1G>A | |
| NM_007287.2:c.654+1G>A | NP_009218.2:n.654+1G>A | |
| NM_007288.2:c.654+1G>A | NP_009219.2:n.654+1G>A | |
| NM_007289.2:c.654+1G>A | NP_009220.2:n.654+1G>A | |
| XM_006713646.2:c.654+1G>A | XP_006713709.1:n.654+1G>A | |
| XM_006713647.2:c.654+1G>A | XP_006713710.1:n.654+1G>A | |
| XM_011512855.1:c.654+1G>A | XP_011511157.1:n.654+1G>A | |
| XM_011512856.1:c.654+1G>A | XP_011511158.1:n.654+1G>A | |
| XM_011512857.1:c.654+1G>A | XP_011511159.1:n.654+1G>A | |
| XM_011512858.1:c.654+1G>A | XP_011511160.1:n.654+1G>A | |
| NM_001354642.1:c.654+1G>A | NP_001341571.1:n.654+1G>A | |
| NM_001354643.1:c.654+1G>A | NP_001341572.1:n.654+1G>A | |
| NM_007288.3:c.654+1G>A | NP_009219.2:n.654+1G>A | |
| NM_007289.3:c.654+1G>A | NP_009220.2:n.654+1G>A | |
| XM_006713647.4:c.654+1G>A | XP_006713710.1:n.654+1G>A | |
| XM_011512856.2:c.654+1G>A | XP_011511158.1:n.654+1G>A | |
| XM_011512857.2:c.654+1G>A | XP_011511159.1:n.654+1G>A | |
| NM_000902.4:c.654+1G>A | NP_000893.2:n.654+1G>A | |
| NM_007287.3:c.654+1G>A | NP_009218.2:n.654+1G>A | |
| NM_007289.4:c.654+1G>A MANE Select | NP_009220.2:n.654+1G>A | |
| NM_000902.5:c.654+1G>A | NP_000893.2:n.654+1G>A | |
| NM_001354642.2:c.654+1G>A | NP_001341571.1:n.654+1G>A | |
| NM_007287.4:c.654+1G>A | NP_009218.2:n.654+1G>A |