Linked Data
ClinVar Variation Id:
2981287
ClinVar RCV Id:
RCV003832429
dbSNP Id:
rs1378890524
gnomAD v3:
2-70958155-T-C
gnomAD v4:
2-70958155-T-C
MyVariant Identifiers:
chr2:g.70958155T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70958155T>C , CM000664.2:g.70958155T>C | GRCh38 |
| NC_000002.11:g.71185285T>C , CM000664.1:g.71185285T>C | GRCh37 |
| NC_000002.10:g.71038793T>C | NCBI36 |
| NG_008016.1:g.27288T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234396.10:c.273+11T>C (ATP6V1B1) MANE Select | ENSP00000234396.4:n.273+11T>C | |
| ENST00000432098.2:n.439+11T>C (ATP6V1B1) | ||
| ENST00000432367.6:c.477+11T>C (VAX2) | ||
| ENST00000454446.6:c.273+11T>C (ATP6V1B1) | ENSP00000408361.2:n.273+11T>C | |
| ENST00000646783.1:c.309+11T>C (VAX2) | ||
| ENST00000234396.8:c.273+11T>C (ATP6V1B1) | ENSP00000234396.4:n.273+11T>C | |
| ENST00000412314.5:c.273+11T>C (ATP6V1B1) | ENSP00000388353.1:n.273+11T>C | |
| ENST00000432098.1:c.-88+11T>C (ATP6V1B1) | ENSP00000387599.1:n.-88+11T>C | |
| ENST00000432367.5:c.273+11T>C (ATP6V1B1) | ENSP00000405114.1:n.273+11T>C | |
| ENST00000453130.1:c.143-9780A>G | ||
| ENST00000454446.5:c.324+11T>C (ATP6V1B1) | ENSP00000408361.1:n.324+11T>C | |
| ENST00000463380.1:n.374+11T>C (ATP6V1B1) | ||
| ENST00000606025.5:c.476-15722A>G | ENSP00000475641.1:n.476-15722A>G | |
| NM_001692.3:c.273+11T>C (ATP6V1B1) | NP_001683.2:n.273+11T>C | |
| XM_011532907.1:c.393+11T>C (ATP6V1B1) | XP_011531209.1:n.393+11T>C | |
| NM_001692.4:c.273+11T>C (ATP6V1B1) MANE Select | NP_001683.2:n.273+11T>C | |
| XM_011532907.2:c.393+11T>C (ATP6V1B1) | XP_011531209.1:n.393+11T>C |