Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107710132A>T , CM000669.2:g.107710132A>T | GRCh38 |
| NC_000007.13:g.107350577A>T , CM000669.1:g.107350577A>T | GRCh37 |
| NC_000007.12:g.107137813A>T | NCBI36 |
| NG_008489.1:g.54498A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000441.2:c.2168A>T MANE Select | NP_000432.1:p.His723Leu |
| ENST00000644269.2:c.2168A>T MANE Select | ENSP00000494017.1:p.His723Leu |
| NM_000441.1:c.2168A>T | NP_000432.1:p.His723Leu |
| ENST00000265715.7:c.2168A>T | ENSP00000265715.3:p.His723Leu |
| ENST00000492030.2:n.377-23A>T | |
| ENST00000644846.1:c.824A>T | |
| XM_005250425.1:c.2168A>T | XP_005250482.1:p.His723Leu |
| XM_005250425.2:c.2168A>T | XP_005250482.1:p.His723Leu |
| XM_017012318.1:c.2090A>T | XP_016867807.1:p.His697Leu |