Linked Data
dbSNP Id:
rs745376618
ExAC:
12:52845454 CT / C
gnomAD v2:
12-52845454-CT-C
gnomAD v4:
12-52451670-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451672del , CM000674.2:g.52451672del | GRCh38 |
| NC_000012.11:g.52845456del , CM000674.1:g.52845456del | GRCh37 |
| NC_000012.10:g.51131723del | NCBI36 |
| NG_008299.1:g.5456del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.408del MANE Select | ENSP00000252252.3:p.Glu137ArgfsTer9 | |
| ENST00000252252.3:c.408del | ENSP00000252252.3:p.Glu137ArgfsTer9 | |
| NM_005555.3:c.408del | NP_005546.2:p.Glu137ArgfsTer9 | |
| NM_005555.4:c.408del MANE Select | NP_005546.2:p.Glu137ArgfsTer9 |