Linked Data
dbSNP Id:
rs1236879367
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81646455del , CM000665.2:g.81646455del | GRCh38 |
| NC_000003.11:g.81695606del , CM000665.1:g.81695606del | GRCh37 |
| NC_000003.10:g.81778296del | NCBI36 |
| NG_011810.1:g.120346del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.719del MANE Select | ENSP00000410833.2:p.Ile240ThrfsTer? | |
| ENST00000429644.6:c.719del | ENSP00000410833.2:p.Ile240ThrfsTer? | |
| ENST00000489715.1:c.596del | ENSP00000419638.1:p.Ile199ThrfsTer? | |
| ENST00000498468.1:n.269del | ||
| NM_000158.3:c.719del | NP_000149.3:p.Ile240ThrfsTer? | |
| NM_000158.4:c.719del MANE Select | NP_000149.4:p.Ile240ThrfsTer? |