Linked Data
gnomAD v4:
16-2278292-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2278292G>T , CM000678.2:g.2278292G>T | GRCh38 |
| NC_000016.9:g.2328293G>T , CM000678.1:g.2328293G>T | GRCh37 |
| NC_000016.8:g.2268294G>T | NCBI36 |
| NG_011790.1:g.67455C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.4714C>A MANE Select | ENSP00000301732.5:p.His1572Asn | |
| ENST00000301732.9:c.4714C>A | ENSP00000301732.5:p.His1572Asn | |
| ENST00000382381.7:c.4540C>A | ENSP00000371818.3:p.His1514Asn | |
| NM_001089.2:c.4714C>A | NP_001080.2:p.His1572Asn | |
| NM_001089.3:c.4714C>A MANE Select | NP_001080.2:p.His1572Asn |