Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612306A>T , CM000679.2:g.41612306A>T | GRCh38 |
| NC_000017.10:g.39768558A>T , CM000679.1:g.39768558A>T | GRCh37 |
| NC_000017.9:g.37022084A>T | NCBI36 |
| NG_008301.1:g.5522T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.383T>A MANE Select | ENSP00000301653.3:p.Leu128Gln | |
| ENST00000301653.8:c.383T>A | ENSP00000301653.3:p.Leu128Gln | |
| ENST00000588319.1:n.460T>A | ||
| ENST00000593067.1:c.-312-20T>A | ENSP00000467124.1:n.-312-20T>A | |
| NM_005557.3:c.383T>A | NP_005548.2:p.Leu128Gln | |
| NM_005557.4:c.383T>A MANE Select | NP_005548.2:p.Leu128Gln |