Linked Data
gnomAD v4:
16-2285555-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2285555C>T , CM000678.2:g.2285555C>T | GRCh38 |
| NC_000016.9:g.2335556C>T , CM000678.1:g.2335556C>T | GRCh37 |
| NC_000016.8:g.2275557C>T | NCBI36 |
| NG_011790.1:g.60192G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.3370G>A MANE Select | ENSP00000301732.5:p.Ala1124Thr | |
| ENST00000301732.9:c.3370G>A | ENSP00000301732.5:p.Ala1124Thr | |
| ENST00000382381.7:c.3196G>A | ENSP00000371818.3:p.Ala1066Thr | |
| NM_001089.2:c.3370G>A | NP_001080.2:p.Ala1124Thr | |
| NM_001089.3:c.3370G>A MANE Select | NP_001080.2:p.Ala1124Thr |