Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.920300T>A , CM000681.2:g.920300T>A | GRCh38 |
| NC_000019.9:g.920300T>A , CM000681.1:g.920300T>A | GRCh37 |
| NC_000019.8:g.871300T>A | NCBI36 |
| NG_008277.1:g.7959T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032551.5:c.749T>A MANE Select | NP_115940.2:p.Leu250Gln |
| ENST00000234371.10:c.749T>A MANE Select | ENSP00000234371.3:p.Leu250Gln |
| NM_032551.4:c.749T>A | NP_115940.2:p.Leu250Gln |
| ENST00000234371.9:c.749T>A | ENSP00000234371.3:p.Leu250Gln |
| ENST00000606939.2:c.516T>A | ENSP00000475639.1:p.Ala172= |
| XM_017027382.1:c.516T>A | XP_016882871.1:p.Ala172= |