Linked Data
dbSNP Id:
rs35625854
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945612del , CM000665.2:g.138945612del | GRCh38 |
| NC_000003.11:g.138664454del , CM000665.1:g.138664454del | GRCh37 |
| NC_000003.10:g.140147144del | NCBI36 |
| NG_012454.1:g.6529del | |
| NG_029796.1:g.3379del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.1111del MANE Select | ENSP00000497217.1:p.His371IlefsTer? | |
| ENST00000330315.3:c.1111del | ENSP00000333188.3:p.His371IlefsTer? | |
| NM_023067.3:c.1111del | NP_075555.1:p.His371IlefsTer? | |
| NM_023067.4:c.1111del MANE Select | NP_075555.1:p.His371IlefsTer? |