Linked Data
dbSNP Id:
rs2069979331
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19955828_19955829del , CM000670.2:g.19955828_19955829del | GRCh38 |
| NC_000008.10:g.19813339_19813340del , CM000670.1:g.19813339_19813340del | GRCh37 |
| NC_000008.9:g.19857619_19857620del | NCBI36 |
| NG_008855.1:g.21758_21759del | |
| NG_008855.2:g.59112_59113del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.776-13_776-12del MANE Select | ENSP00000497642.1:n.776-13_776-12del | |
| ENST00000311322.8:c.776-13_776-12del | ENSP00000309757.6:n.776-13_776-12del | |
| NM_000237.2:c.776-13_776-12del | NP_000228.1:n.776-13_776-12del | |
| NM_000237.3:c.776-13_776-12del MANE Select | NP_000228.1:n.776-13_776-12del |