Linked Data
dbSNP Id:
rs1254999181
gnomAD v2:
19-18499386-AG-A
gnomAD v3:
19-18388576-AG-A
gnomAD v4:
19-18388576-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18388581del , CM000681.2:g.18388581del | GRCh38 |
| NC_000019.9:g.18499391del , CM000681.1:g.18499391del | GRCh37 |
| NC_000019.8:g.18360391del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595973.3:c.573del | ENSP00000470531.3:p.Arg192AlafsTer? | |
| ENST00000597765.2:c.573del | ENSP00000469819.2:p.Arg192AlafsTer? | |
| ENST00000252809.3:c.573del MANE Select | ENSP00000252809.3:p.Arg192AlafsTer? | |
| NM_004864.2:c.573del | NP_004855.2:p.Arg192AlafsTer? | |
| NM_004864.3:c.573del | NP_004855.2:p.Arg192AlafsTer? | |
| XM_024451789.1:c.573del | XP_024307557.1:p.Arg192AlafsTer? | |
| NM_004864.4:c.573del MANE Select | NP_004855.2:p.Arg192AlafsTer? |