Linked Data
dbSNP Id:
rs2107744064
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946165_138946166insACGGC , CM000665.2:g.138946165_138946166insACGGC | GRCh38 |
| NC_000003.11:g.138665007_138665008insACGGC , CM000665.1:g.138665007_138665008insACGGC | GRCh37 |
| NC_000003.10:g.140147697_140147698insACGGC | NCBI36 |
| NG_012454.1:g.5975_5976insGCCGT | |
| NG_029796.1:g.3932_3933insACGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.557_558insGCCGT MANE Select | ENSP00000497217.1:p.Tyr186Ter | |
| ENST00000330315.3:c.557_558insGCCGT | ENSP00000333188.3:p.Tyr186Ter | |
| NM_023067.3:c.557_558insGCCGT | NP_075555.1:p.Tyr186Ter | |
| NM_023067.4:c.557_558insGCCGT MANE Select | NP_075555.1:p.Tyr186Ter |