Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612309C>A , CM000679.2:g.41612309C>A | GRCh38 |
| NC_000017.10:g.39768561C>A , CM000679.1:g.39768561C>A | GRCh37 |
| NC_000017.9:g.37022087C>A | NCBI36 |
| NG_008301.1:g.5519G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005557.4:c.380G>T MANE Select | NP_005548.2:p.Arg127Leu |
| ENST00000301653.9:c.380G>T MANE Select | ENSP00000301653.3:p.Arg127Leu |
| NM_005557.3:c.380G>T | NP_005548.2:p.Arg127Leu |
| ENST00000301653.8:c.380G>T | ENSP00000301653.3:p.Arg127Leu |
| ENST00000588319.1:n.457G>T | |
| ENST00000593067.1:c.-312-23G>T | ENSP00000467124.1:n.-312-23G>T |