Linked Data
dbSNP Id:
rs748412978
ExAC:
9:38396470 GC / G
gnomAD v2:
9-38396470-GC-G
gnomAD v4:
9-38396473-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396476del , CM000671.2:g.38396476del | GRCh38 |
| NC_000009.11:g.38396473del , CM000671.1:g.38396473del | GRCh37 |
| NC_000009.10:g.38386473del | NCBI36 |
| NG_012253.1:g.8772del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377698.4:c.728del MANE Select | ENSP00000366927.3:p.Pro243GlnfsTer27 | |
| ENST00000377698.3:c.728del | ENSP00000366927.3:p.Pro243GlnfsTer27 | |
| NM_000692.4:c.728del | NP_000683.3:p.Pro243GlnfsTer27 | |
| XM_011517802.1:c.728del | XP_011516104.1:p.Pro243GlnfsTer27 | |
| XM_011517802.2:c.728del | XP_011516104.1:p.Pro243GlnfsTer27 | |
| NM_000692.5:c.728del MANE Select | NP_000683.3:p.Pro243GlnfsTer27 |