Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28844968A>T , CM000678.2:g.28844968A>T | GRCh38 |
| NC_000016.9:g.28856289A>T , CM000678.1:g.28856289A>T | GRCh37 |
| NC_000016.8:g.28763790A>T | NCBI36 |
| NG_008964.1:g.6441T>A | |
| NG_029706.2:g.3369A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003321.5:c.502T>A MANE Select | NP_003312.3:p.Leu168Ile |
| ENST00000313511.8:c.502T>A MANE Select | ENSP00000322439.3:p.Leu168Ile |
| NM_001365360.1:c.502T>A | NP_001352289.1:p.Leu168Ile |
| NM_001365360.2:c.502T>A | NP_001352289.1:p.Leu168Ile |
| NM_003321.4:c.502T>A | NP_003312.3:p.Leu168Ile |
| ENST00000313511.7:c.502T>A | ENSP00000322439.3:p.Leu168Ile |
| ENST00000561644.1:n.40T>A | |
| ENST00000565012.1:c.*29T>A | ENSP00000455007.1:n.*29T>A |
| XM_011545928.1:c.502T>A | XP_011544230.1:p.Leu168Ile |