Linked Data
gnomAD v4:
12-14507095-GAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14507096_14507097del , CM000674.2:g.14507096_14507097del | GRCh38 |
| NC_000012.11:g.14660030_14660031del , CM000674.1:g.14660030_14660031del | GRCh37 |
| NC_000012.10:g.14551297_14551298del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240617.10:c.1208_1209del MANE Select | ENSP00000240617.5:p.Val403AlafsTer4 | |
| ENST00000240617.9:c.1208_1209del | ENSP00000240617.5:p.Val403AlafsTer4 | |
| NM_024829.5:c.1208_1209del | NP_079105.4:p.Val403AlafsTer4 | |
| NM_024829.6:c.1208_1209del MANE Select | NP_079105.4:p.Val403AlafsTer4 |