Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49435525G>T , CM000668.2:g.49435525G>T | GRCh38 |
| NC_000006.11:g.49403238G>T , CM000668.1:g.49403238G>T | GRCh37 |
| NC_000006.10:g.49511197G>T | NCBI36 |
| NG_007100.1:g.32615C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000255.4:c.2055C>A MANE Select | NP_000246.2:p.Leu685= |
| ENST00000274813.4:c.2055C>A MANE Select | ENSP00000274813.3:p.Leu685= |
| NM_000255.3:c.2055C>A | NP_000246.2:p.Leu685= |
| ENST00000274813.3:c.2055C>A | ENSP00000274813.3:p.Leu685= |
| XM_005249143.2:c.2055C>A | XP_005249200.1:p.Leu685= |
| XM_005249143.3:c.2055C>A | XP_005249200.1:p.Leu685= |