Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49431764A>G , CM000668.2:g.49431764A>G | GRCh38 |
| NC_000006.11:g.49399477A>G , CM000668.1:g.49399477A>G | GRCh37 |
| NC_000006.10:g.49507436A>G | NCBI36 |
| NG_007100.1:g.36376T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000255.4:c.2217T>C MANE Select | NP_000246.2:p.Ile739= |
| ENST00000274813.4:c.2217T>C MANE Select | ENSP00000274813.3:p.Ile739= |
| NM_000255.3:c.2217T>C | NP_000246.2:p.Ile739= |
| ENST00000274813.3:c.2217T>C | ENSP00000274813.3:p.Ile739= |
| XM_005249143.2:c.2217T>C | XP_005249200.1:p.Ile739= |
| XM_005249143.3:c.2217T>C | XP_005249200.1:p.Ile739= |