Linked Data
dbSNP Id:
rs1178250354
gnomAD v2:
19-7592374-CCT-C
gnomAD v3:
19-7527488-CCT-C
gnomAD v4:
19-7527488-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527489_7527490del , CM000681.2:g.7527489_7527490del | GRCh38 |
| NC_000019.9:g.7592375_7592376del , CM000681.1:g.7592375_7592376del | GRCh37 |
| NC_000019.8:g.7498375_7498376del | NCBI36 |
| NG_015806.1:g.9880_9881del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.572-31_572-30del MANE Select | ENSP00000264079.5:n.572-31_572-30del | |
| ENST00000264079.10:c.572-31_572-30del | ENSP00000264079.5:n.572-31_572-30del | |
| ENST00000394321.9:n.652-31_652-30del | ||
| ENST00000598406.1:n.393-31_393-30del | ||
| ENST00000601003.1:c.572-375_572-374del | ENSP00000469074.1:n.572-375_572-374del | |
| NM_020533.2:c.572-31_572-30del | NP_065394.1:n.572-31_572-30del | |
| NM_020533.3:c.572-31_572-30del MANE Select | NP_065394.1:n.572-31_572-30del |