Linked Data
ClinVar Variation Id:
203569
dbSNP Id:
rs796051906
MyVariant Identifiers:
chr12:g.121176677_121176679delinsTGT (hg19)
chr12:g.120738874_120738876delinsTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120738874_120738876delinsTGT , CM000674.2:g.120738874_120738876delinsTGT | GRCh38 |
| NC_000012.11:g.121176677_121176679delinsTGT , CM000674.1:g.121176677_121176679delinsTGT | GRCh37 |
| NC_000012.10:g.119661060_119661062delinsTGT | NCBI36 |
| NG_007991.1:g.18107_18109delinsTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.988_990delinsTGT MANE Select | ENSP00000242592.4:p.Arg330Cys | |
| ENST00000242592.8:c.988_990delinsTGT | ENSP00000242592.4:p.Arg330Cys | |
| ENST00000411593.2:c.976_978delinsTGT | ENSP00000401045.2:p.Arg326Cys | |
| NM_000017.3:c.988_990delinsTGT | NP_000008.1:p.Arg330Cys | |
| NM_001302554.1:c.976_978delinsTGT | NP_001289483.1:p.Arg326Cys | |
| NM_000017.4:c.988_990delinsTGT MANE Select | NP_000008.1:p.Arg330Cys | |
| NM_001302554.2:c.976_978delinsTGT | NP_001289483.1:p.Arg326Cys |