Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48966367G>A , CM000681.2:g.48966367G>A | GRCh38 |
| NC_000019.9:g.49469624G>A , CM000681.1:g.49469624G>A | GRCh37 |
| NC_000019.8:g.54161436G>A | NCBI36 |
| NG_008152.1:g.6059G>A | |
| NG_012923.1:g.31987C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000146.4:c.336G>A MANE Select | NP_000137.2:p.Leu112= |
| ENST00000331825.11:c.336G>A MANE Select | ENSP00000366525.2:p.Leu112= |
| NM_000146.3:c.336G>A | NP_000137.2:p.Leu112= |
| ENST00000331825.10:c.336G>A | ENSP00000366525.2:p.Leu112= |
| ENST00000622577.2:c.336G>A | ENSP00000484043.1:p.Leu112= |
| XM_024451447.1:c.846G>A | XP_024307215.1:p.Leu282= |