Linked Data
dbSNP Id:
rs763225196
ExAC:
8:10470289 TG / T
gnomAD v2:
8-10470289-TG-T
gnomAD v4:
8-10612779-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612781del , CM000670.2:g.10612781del | GRCh38 |
| NC_000008.10:g.10470291del , CM000670.1:g.10470291del | GRCh37 |
| NC_000008.9:g.10507701del | NCBI36 |
| NG_028035.1:g.47328del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.1318del MANE Select | ENSP00000371923.3:p.His440ThrfsTer? | |
| ENST00000382483.3:c.1318del | ENSP00000371923.3:p.His440ThrfsTer? | |
| NM_178857.5:c.1318del | NP_849188.4:p.His440ThrfsTer? | |
| NM_178857.6:c.1318del MANE Select | NP_849188.4:p.His440ThrfsTer? |