Linked Data
dbSNP Id:
rs1400909473
gnomAD v2:
19-47507418-TG-T
gnomAD v3:
19-47004161-TG-T
gnomAD v4:
19-47004161-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47004162del , CM000681.2:g.47004162del | GRCh38 |
| NC_000019.9:g.47507419del , CM000681.1:g.47507419del | GRCh37 |
| NC_000019.8:g.52199259del | NCBI36 |
| NG_047014.1:g.90596del | |
| NG_047014.2:g.148166del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.7974del | ENSP00000385720.2:n.7974del | |
| ENST00000672722.1:c.*3474del MANE Select | ENSP00000500409.1:n.*3474del | |
| ENST00000404338.7:c.7974del | ENSP00000385720.2:n.7974del | |
| ENST00000614079.1:c.7551del | ENSP00000483730.1:n.7551del | |
| NM_004491.4:c.7974del | NP_004482.4:n.7974del | |
| NM_004491.5:c.*3474del MANE Select | NP_004482.4:n.*3474del |