Linked Data
dbSNP Id:
rs868808487
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571469_154571470delinsTT , CM000663.2:g.154571469_154571470delinsTT | GRCh38 |
| NC_000001.10:g.154543945_154543946delinsTT , CM000663.1:g.154543945_154543946delinsTT | GRCh37 |
| NC_000001.9:g.152810569_152810570delinsTT | NCBI36 |
| NG_008027.1:g.8689_8690delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.646_647delinsTT MANE Select | ENSP00000357461.3:p.Pro216Phe | |
| ENST00000636034.1:c.646_647delinsTT | ENSP00000489703.1:p.Pro216Phe | |
| ENST00000637900.1:c.652_653delinsTT | ENSP00000490474.1:p.Pro218Phe | |
| ENST00000368476.3:c.646_647delinsTT | ENSP00000357461.3:p.Pro216Phe | |
| NM_000748.2:c.646_647delinsTT | NP_000739.1:p.Pro216Phe | |
| XM_017000180.2:c.136_137delinsTT | XP_016855669.1:p.Pro46Phe | |
| XR_001736952.2:n.898_899delinsTT | ||
| NM_000748.3:c.646_647delinsTT MANE Select | NP_000739.1:p.Pro216Phe |