Linked Data
dbSNP Id:
rs767520639
ExAC:
19:18499385 CA / C
gnomAD v2:
19-18499385-CA-C
gnomAD v3:
19-18388575-CA-C
gnomAD v4:
19-18388575-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18388576del , CM000681.2:g.18388576del | GRCh38 |
| NC_000019.9:g.18499386del , CM000681.1:g.18499386del | GRCh37 |
| NC_000019.8:g.18360386del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595973.3:c.568del | ENSP00000470531.3:p.Arg190GlyfsTer? | |
| ENST00000597765.2:c.568del | ENSP00000469819.2:p.Arg190GlyfsTer? | |
| ENST00000252809.3:c.568del MANE Select | ENSP00000252809.3:p.Arg190GlyfsTer? | |
| NM_004864.2:c.568del | NP_004855.2:p.Arg190GlyfsTer? | |
| NM_004864.3:c.568del | NP_004855.2:p.Arg190GlyfsTer? | |
| XM_024451789.1:c.568del | XP_024307557.1:p.Arg190GlyfsTer? | |
| NM_004864.4:c.568del MANE Select | NP_004855.2:p.Arg190GlyfsTer? |