Linked Data
dbSNP Id:
rs782359018
ExAC:
2:71185304 T / C
gnomAD v2:
2-71185304-T-C
gnomAD v3:
2-70958174-T-C
gnomAD v4:
2-70958174-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70958174T>C , CM000664.2:g.70958174T>C | GRCh38 |
| NC_000002.11:g.71185304T>C , CM000664.1:g.71185304T>C | GRCh37 |
| NC_000002.10:g.71038812T>C | NCBI36 |
| NG_008016.1:g.27307T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234396.10:c.273+30T>C (ATP6V1B1) MANE Select | ENSP00000234396.4:n.273+30T>C | |
| ENST00000432098.2:n.439+30T>C (ATP6V1B1) | ||
| ENST00000432367.6:c.477+30T>C (VAX2) | ||
| ENST00000454446.6:c.273+30T>C (ATP6V1B1) | ENSP00000408361.2:n.273+30T>C | |
| ENST00000646783.1:c.309+30T>C (VAX2) | ||
| ENST00000234396.8:c.273+30T>C (ATP6V1B1) | ENSP00000234396.4:n.273+30T>C | |
| ENST00000412314.5:c.273+30T>C (ATP6V1B1) | ENSP00000388353.1:n.273+30T>C | |
| ENST00000432098.1:c.-88+30T>C (ATP6V1B1) | ENSP00000387599.1:n.-88+30T>C | |
| ENST00000432367.5:c.273+30T>C (ATP6V1B1) | ENSP00000405114.1:n.273+30T>C | |
| ENST00000453130.1:c.143-9799A>G | ||
| ENST00000454446.5:c.324+30T>C (ATP6V1B1) | ENSP00000408361.1:n.324+30T>C | |
| ENST00000463380.1:n.374+30T>C (ATP6V1B1) | ||
| ENST00000606025.5:c.476-15741A>G | ENSP00000475641.1:n.476-15741A>G | |
| NM_001692.3:c.273+30T>C (ATP6V1B1) | NP_001683.2:n.273+30T>C | |
| XM_011532907.1:c.393+30T>C (ATP6V1B1) | XP_011531209.1:n.393+30T>C | |
| NM_001692.4:c.273+30T>C (ATP6V1B1) MANE Select | NP_001683.2:n.273+30T>C | |
| XM_011532907.2:c.393+30T>C (ATP6V1B1) | XP_011531209.1:n.393+30T>C |