Linked Data
dbSNP Id:
rs1553419334
gnomAD v2:
2-71185077-GGA-G
gnomAD v3:
2-70957947-GGA-G
gnomAD v4:
2-70957947-GGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70957952_70957953del , CM000664.2:g.70957952_70957953del | GRCh38 |
| NC_000002.11:g.71185082_71185083del , CM000664.1:g.71185082_71185083del | GRCh37 |
| NC_000002.10:g.71038590_71038591del | NCBI36 |
| NG_008016.1:g.27085_27086del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234396.10:c.175-94_175-93del (ATP6V1B1) MANE Select | ENSP00000234396.4:n.175-94_175-93del | |
| ENST00000432098.2:n.341-94_341-93del (ATP6V1B1) | ||
| ENST00000432367.6:c.379-94_379-93del (VAX2) | ||
| ENST00000454446.6:c.175-94_175-93del (ATP6V1B1) | ENSP00000408361.2:n.175-94_175-93del | |
| ENST00000646783.1:c.211-94_211-93del (VAX2) | ||
| ENST00000234396.8:c.175-94_175-93del (ATP6V1B1) | ENSP00000234396.4:n.175-94_175-93del | |
| ENST00000412314.5:c.175-94_175-93del (ATP6V1B1) | ENSP00000388353.1:n.175-94_175-93del | |
| ENST00000432098.1:c.-186-94_-186-93del (ATP6V1B1) | ENSP00000387599.1:n.-186-94_-186-93del | |
| ENST00000432367.5:c.175-94_175-93del (ATP6V1B1) | ENSP00000405114.1:n.175-94_175-93del | |
| ENST00000453130.1:c.143-9574_143-9573del | ||
| ENST00000454446.5:c.226-94_226-93del (ATP6V1B1) | ENSP00000408361.1:n.226-94_226-93del | |
| ENST00000463380.1:n.182_183del (ATP6V1B1) | ||
| ENST00000606025.5:c.476-15516_476-15515del | ENSP00000475641.1:n.476-15516_476-15515del | |
| NM_001692.3:c.175-94_175-93del (ATP6V1B1) | NP_001683.2:n.175-94_175-93del | |
| XM_011532907.1:c.295-94_295-93del (ATP6V1B1) | XP_011531209.1:n.295-94_295-93del | |
| NM_001692.4:c.175-94_175-93del (ATP6V1B1) MANE Select | NP_001683.2:n.175-94_175-93del | |
| XM_011532907.2:c.295-94_295-93del (ATP6V1B1) | XP_011531209.1:n.295-94_295-93del |