Linked Data
dbSNP Id:
rs10406920
ExAC:
19:17389648 C / T
gnomAD v2:
19-17389648-C-T
gnomAD v3:
19-17278839-C-T
gnomAD v4:
19-17278839-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17278839C>T , CM000681.2:g.17278839C>T | GRCh38 |
| NC_000019.9:g.17389648C>T , CM000681.1:g.17389648C>T | GRCh37 |
| NC_000019.8:g.17250648C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000598188.6:c.787-6C>T (BABAM1) MANE Select | ENSP00000471605.1:n.787-6C>T | |
| ENST00000359435.8:c.787-6C>T (BABAM1) | ENSP00000352408.3:n.787-6C>T | |
| ENST00000447614.6:c.562-6C>T (BABAM1) | ENSP00000407826.3:n.562-6C>T | |
| ENST00000594247.5:c.*498+1495C>T (BABAM1) | ENSP00000469527.1:n.*498+1495C>T | |
| ENST00000595632.5:c.562-6C>T (BABAM1) | ENSP00000468834.1:n.562-6C>T | |
| ENST00000596542.1:c.*400+1930C>T | ENSP00000469159.2:n.*400+1930C>T | |
| ENST00000598188.5:c.787-6C>T (BABAM1) | ENSP00000471605.1:n.787-6C>T | |
| ENST00000598309.1:c.-201+3697G>A (USHBP1) | ENSP00000471680.1:n.-201+3697G>A | |
| ENST00000598382.1:n.285-6C>T (BABAM1) | ||
| ENST00000598567.1:c.232-198C>T (BABAM1) | ||
| ENST00000601043.5:c.787-6C>T (BABAM1) | ENSP00000470920.1:n.787-6C>T | |
| ENST00000601232.1:c.193-6C>T (BABAM1) | ENSP00000470295.1:n.193-6C>T | |
| NM_001033549.2:c.787-6C>T (BABAM1) | NP_001028721.1:n.787-6C>T | |
| NM_001288756.1:c.787-6C>T (BABAM1) | NP_001275685.1:n.787-6C>T | |
| NM_001288757.1:c.562-6C>T (BABAM1) | NP_001275686.1:n.562-6C>T | |
| NM_014173.3:c.787-6C>T (BABAM1) | NP_054892.2:n.787-6C>T | |
| NM_014173.4:c.787-6C>T (BABAM1) MANE Select | NP_054892.2:n.787-6C>T | |
| NM_001033549.3:c.787-6C>T (BABAM1) | NP_001028721.1:n.787-6C>T | |
| NM_001288756.2:c.787-6C>T (BABAM1) | NP_001275685.1:n.787-6C>T | |
| NM_001288757.2:c.562-6C>T (BABAM1) | NP_001275686.1:n.562-6C>T |