Linked Data
gnomAD v4:
13-27924367-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924367G>T , CM000675.2:g.27924367G>T | GRCh38 |
| NC_000013.10:g.28498504G>T , CM000675.1:g.28498504G>T | GRCh37 |
| NC_000013.9:g.27396504G>T | NCBI36 |
| NG_008183.1:g.9337G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.518G>T MANE Select | ENSP00000370421.4:p.Arg173Leu | |
| ENST00000381033.4:c.518G>T | ENSP00000370421.4:p.Arg173Leu | |
| NM_000209.3:c.518G>T | NP_000200.1:p.Arg173Leu | |
| NM_000209.4:c.518G>T MANE Select | NP_000200.1:p.Arg173Leu |