Linked Data
ClinVar Variation Id:
2024522
ClinVar RCV Id:
RCV002847753
dbSNP Id:
rs745366624
ExAC:
1:45966086 G / T
gnomAD v2:
1-45966086-G-T
gnomAD v4:
1-45500414-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45500414G>T , CM000663.2:g.45500414G>T | GRCh38 |
| NC_000001.10:g.45966086G>T , CM000663.1:g.45966086G>T | GRCh37 |
| NC_000001.9:g.45738673G>T | NCBI36 |
| NG_013378.1:g.5231G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.81+1G>T MANE Select | ENSP00000383840.4:n.81+1G>T | |
| ENST00000401061.8:c.81+1G>T | ENSP00000383840.4:n.81+1G>T | |
| ENST00000616135.1:c.-91+1G>T | ENSP00000478859.1:n.-91+1G>T | |
| NM_015506.2:c.81+1G>T | NP_056321.2:n.81+1G>T | |
| XM_005270724.3:c.81+1G>T | XP_005270781.1:n.81+1G>T | |
| XM_011541204.1:c.-142+1G>T | XP_011539506.1:n.-142+1G>T | |
| NM_001330540.1:c.-142+1G>T | NP_001317469.1:n.-142+1G>T | |
| XM_005270724.5:c.81+1G>T | XP_005270781.1:n.81+1G>T | |
| NM_015506.3:c.81+1G>T MANE Select | NP_056321.2:n.81+1G>T | |
| NM_001330540.2:c.-142+1G>T | NP_001317469.1:n.-142+1G>T |