Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49431842C>A , CM000668.2:g.49431842C>A | GRCh38 |
| NC_000006.11:g.49399555C>A , CM000668.1:g.49399555C>A | GRCh37 |
| NC_000006.10:g.49507514C>A | NCBI36 |
| NG_007100.1:g.36298G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000255.4:c.2139G>T MANE Select | NP_000246.2:p.Leu713= |
| ENST00000274813.4:c.2139G>T MANE Select | ENSP00000274813.3:p.Leu713= |
| NM_000255.3:c.2139G>T | NP_000246.2:p.Leu713= |
| ENST00000274813.3:c.2139G>T | ENSP00000274813.3:p.Leu713= |
| XM_005249143.2:c.2139G>T | XP_005249200.1:p.Leu713= |
| XM_005249143.3:c.2139G>T | XP_005249200.1:p.Leu713= |