Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52029742A>T , CM000666.2:g.52029742A>T | GRCh38 |
| NC_000004.11:g.52895908A>T , CM000666.1:g.52895908A>T | GRCh37 |
| NC_000004.10:g.52590665A>T | NCBI36 |
| NG_008891.1:g.13578T>A , LRG_204:g.13578T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.365T>A MANE Select | ENSP00000370839.6:p.Leu122His | |
| ENST00000381431.9:c.365T>A | ENSP00000370839.5:p.Leu122His | |
| ENST00000506357.5:c.448T>A | ||
| ENST00000514133.1:c.442T>A | ENSP00000425818.1:n.442T>A | |
| NM_000232.4:c.365T>A , LRG_204t1:c.365T>A | NP_000223.1:p.Leu122His | |
| XM_006714049.2:c.68T>A | XP_006714112.1:p.Leu23His | |
| XM_011534403.1:c.155T>A | XP_011532705.1:p.Leu52His | |
| XM_011534404.1:c.68T>A | XP_011532706.1:p.Leu23His | |
| NM_000232.5:c.365T>A MANE Select | NP_000223.1:p.Leu122His |