Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52452222A>T , CM000665.2:g.52452222A>T | GRCh38 |
| NC_000003.11:g.52486238A>T , CM000665.1:g.52486238A>T | GRCh37 |
| NC_000003.10:g.52461278A>T | NCBI36 |
| NG_008963.1:g.6820T>A , LRG_378:g.6820T>A | |
| NG_033112.1:g.1715A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003280.3:c.86T>A MANE Select | NP_003271.1:p.Leu29Gln |
| ENST00000232975.8:c.86T>A MANE Select | ENSP00000232975.3:p.Leu29Gln |
| NM_003280.2:c.86T>A , LRG_378t1:c.86T>A | NP_003271.1:p.Leu29Gln |
| ENST00000232975.7:c.86T>A | ENSP00000232975.3:p.Leu29Gln |
| ENST00000496590.1:c.-47T>A | ENSP00000420596.1:n.-47T>A |