Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612350C>T , CM000679.2:g.41612350C>T | GRCh38 |
| NC_000017.10:g.39768602C>T , CM000679.1:g.39768602C>T | GRCh37 |
| NC_000017.9:g.37022128C>T | NCBI36 |
| NG_008301.1:g.5478G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.339G>A MANE Select | ENSP00000301653.3:p.Leu113= | |
| ENST00000301653.8:c.339G>A | ENSP00000301653.3:p.Leu113= | |
| ENST00000588319.1:n.416G>A | ||
| ENST00000593067.1:c.-312-64G>A | ENSP00000467124.1:n.-312-64G>A | |
| NM_005557.3:c.339G>A | NP_005548.2:p.Leu113= | |
| NM_005557.4:c.339G>A MANE Select | NP_005548.2:p.Leu113= |