Linked Data
gnomAD v4:
1-1232591-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232591G>T , CM000663.2:g.1232591G>T | GRCh38 |
| NC_000001.10:g.1167971G>T , CM000663.1:g.1167971G>T | GRCh37 |
| NC_000001.9:g.1157834G>T | NCBI36 |
| NG_030007.1:g.4477C>A | |
| NG_033265.1:g.5343G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379198.5:c.313G>T MANE Select | ENSP00000368496.2:p.Glu105Ter | |
| ENST00000379198.3:c.313G>T | ENSP00000368496.2:p.Glu105Ter | |
| NM_080605.3:c.313G>T | NP_542172.2:p.Glu105Ter | |
| NM_080605.4:c.313G>T MANE Select | NP_542172.2:p.Glu105Ter |