Linked Data
gnomAD v4:
16-2317679-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2317679G>A , CM000678.2:g.2317679G>A | GRCh38 |
| NC_000016.9:g.2367680G>A , CM000678.1:g.2367680G>A | GRCh37 |
| NC_000016.8:g.2307681G>A | NCBI36 |
| NG_011790.1:g.28068C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.959C>T MANE Select | ENSP00000301732.5:p.Ala320Val | |
| ENST00000301732.9:c.959C>T | ENSP00000301732.5:p.Ala320Val | |
| ENST00000382381.7:c.959C>T | ENSP00000371818.3:p.Ala320Val | |
| ENST00000563623.5:n.1522C>T | ||
| NM_001089.2:c.959C>T | NP_001080.2:p.Ala320Val | |
| NM_001089.3:c.959C>T MANE Select | NP_001080.2:p.Ala320Val |