Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137199540T>A , CM000671.2:g.137199540T>A | GRCh38 |
| NC_000009.11:g.140093992T>A , CM000671.1:g.140093992T>A | GRCh37 |
| NC_000009.10:g.139213813T>A | NCBI36 |
| NG_027801.1:g.6172A>T | |
| NG_027801.2:g.9654A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409012.6:c.1172A>T MANE Select | ENSP00000387100.4:p.Gln391Leu | |
| ENST00000333046.8:c.566A>T | ENSP00000327617.4:p.Gln189Leu | |
| ENST00000409012.4:c.1172A>T | ENSP00000387100.4:p.Gln391Leu | |
| ENST00000541945.1:n.90+4564A>T | ||
| NM_001128228.2:c.1172A>T | NP_001121700.2:p.Gln391Leu | |
| NM_001128228.3:c.1172A>T MANE Select | NP_001121700.2:p.Gln391Leu |