Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48463822A>T , CM000675.2:g.48463822A>T | GRCh38 |
| NC_000013.10:g.49037958A>T , CM000675.1:g.49037958A>T | GRCh37 |
| NC_000013.9:g.47935959A>T | NCBI36 |
| NG_009009.1:g.165076A>T , LRG_517:g.165076A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.2198A>T MANE Select | NP_000312.2:p.His733Leu |
| ENST00000267163.6:c.2198A>T MANE Select | ENSP00000267163.4:p.His733Leu |
| NM_000321.2:c.2198A>T , LRG_517t1:c.2198A>T | NP_000312.2:p.His733Leu |
| ENST00000267163.4:c.2198A>T | ENSP00000267163.4:p.His733Leu |
| ENST00000643064.1:c.194+82379A>T | |
| ENST00000650461.1:c.2198A>T | ENSP00000497193.1:p.His733Leu |
| XM_011535171.1:c.1937A>T | XP_011533473.1:p.His646Leu |
| XM_011535171.2:c.1937A>T | XP_011533473.1:p.His646Leu |