Linked Data
ClinVar Variation Id:
553196
ClinVar RCV Id:
RCV000668592
dbSNP Id:
rs1555742837
MyVariant Identifiers:
chr19:g.7533787del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533787del , CM000681.2:g.7533787del | GRCh38 |
| NC_000019.9:g.7598673del , CM000681.1:g.7598673del | GRCh37 |
| NC_000019.8:g.7504673del | NCBI36 |
| NG_013374.1:g.4636del | |
| NG_015806.1:g.16178del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1735del MANE Select | ENSP00000264079.5:p.Val579Ter | |
| ENST00000264079.10:c.1735del | ENSP00000264079.5:p.Val579Ter | |
| ENST00000394321.9:n.2050del | ||
| ENST00000599334.1:c.463del | ||
| ENST00000601870.1:c.88del | ||
| ENST00000602227.1:n.289del | ||
| NM_020533.2:c.1735del | NP_065394.1:p.Val579Ter | |
| NM_020533.3:c.1735del MANE Select | NP_065394.1:p.Val579Ter |