Linked Data
dbSNP Id:
rs758030729
ExAC:
14:24725267 GC / G
gnomAD v2:
14-24725267-GC-G
gnomAD v4:
14-24256061-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24256063del , CM000676.2:g.24256063del | GRCh38 |
| NC_000014.8:g.24725269del , CM000676.1:g.24725269del | GRCh37 |
| NC_000014.7:g.23795109del | NCBI36 |
| NG_007150.1:g.12105del | |
| NG_007150.2:g.12105del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000206765.11:c.1418del MANE Select | ENSP00000206765.6:p.Gly473AlafsTer15 | |
| ENST00000206765.10:c.1418del | ENSP00000206765.6:p.Gly473AlafsTer15 | |
| ENST00000544573.5:c.92del | ENSP00000439446.1:p.Gly31AlafsTer15 | |
| ENST00000559136.1:c.491del | ENSP00000453337.1:p.Gly164AlafsTer15 | |
| NM_000359.2:c.1418del | NP_000350.1:p.Gly473AlafsTer15 | |
| NM_000359.3:c.1418del MANE Select | NP_000350.1:p.Gly473AlafsTer15 |