Linked Data
ClinVar Variation Id:
370920
ClinVar RCV Id:
RCV002058838
dbSNP Id:
rs1057516868
gnomAD v3:
1-99862255-A-T
gnomAD v4:
1-99862255-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99862255A>T , CM000663.2:g.99862255A>T | GRCh38 |
| NC_000001.10:g.100327811A>T , CM000663.1:g.100327811A>T | GRCh37 |
| NC_000001.9:g.100100399A>T | NCBI36 |
| NG_012865.1:g.17172A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361915.8:c.294-2A>T MANE Select | ENSP00000355106.3:n.294-2A>T | |
| ENST00000637337.1:n.505-2A>T | ||
| ENST00000294724.8:c.294-2A>T | ENSP00000294724.4:n.294-2A>T | |
| ENST00000361302.7:c.246-2A>T | ENSP00000354971.3:n.246-2A>T | |
| ENST00000361522.4:c.243-2A>T | ENSP00000354635.4:n.243-2A>T | |
| ENST00000361915.7:c.294-2A>T | ENSP00000355106.3:n.294-2A>T | |
| ENST00000370161.6:c.246-2A>T | ENSP00000359180.2:n.246-2A>T | |
| ENST00000370163.7:c.294-2A>T | ENSP00000359182.3:n.294-2A>T | |
| ENST00000370165.7:c.294-2A>T | ENSP00000359184.3:n.294-2A>T | |
| NM_000028.2:c.294-2A>T | NP_000019.2:n.294-2A>T | |
| NM_000642.2:c.294-2A>T | NP_000633.2:n.294-2A>T | |
| NM_000643.2:c.294-2A>T | NP_000634.2:n.294-2A>T | |
| NM_000644.2:c.294-2A>T | NP_000635.2:n.294-2A>T | |
| NM_000645.2:c.243-2A>T | NP_000636.2:n.243-2A>T | |
| NM_000646.2:c.246-2A>T | NP_000637.2:n.246-2A>T | |
| XM_005270557.1:c.294-2A>T | XP_005270614.1:n.294-2A>T | |
| XM_005270557.2:c.294-2A>T | XP_005270614.1:n.294-2A>T | |
| NM_000642.3:c.294-2A>T MANE Select | NP_000633.2:n.294-2A>T |