Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196487516C>A , CM000665.2:g.196487516C>A | GRCh38 |
| NC_000003.11:g.196214387C>A , CM000665.1:g.196214387C>A | GRCh37 |
| NC_000003.10:g.197698784C>A | NCBI36 |
| NG_023425.1:g.21253G>T , LRG_185:g.21253G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318037.3:c.441G>T MANE Select | ENSP00000320898.3:p.Gln147His | |
| ENST00000437070.1:c.*13G>T | ENSP00000396712.1:n.*13G>T | |
| NM_152617.3:c.441G>T , LRG_185t1:c.441G>T | NP_689830.2:p.Gln147His | |
| NM_152617.4:c.441G>T MANE Select | NP_689830.2:p.Gln147His |