Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49435498C>T , CM000668.2:g.49435498C>T | GRCh38 |
| NC_000006.11:g.49403211C>T , CM000668.1:g.49403211C>T | GRCh37 |
| NC_000006.10:g.49511170C>T | NCBI36 |
| NG_007100.1:g.32642G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000255.4:c.2082G>A MANE Select | NP_000246.2:p.Arg694= |
| ENST00000274813.4:c.2082G>A MANE Select | ENSP00000274813.3:p.Arg694= |
| NM_000255.3:c.2082G>A | NP_000246.2:p.Arg694= |
| ENST00000274813.3:c.2082G>A | ENSP00000274813.3:p.Arg694= |
| XM_005249143.2:c.2082G>A | XP_005249200.1:p.Arg694= |
| XM_005249143.3:c.2082G>A | XP_005249200.1:p.Arg694= |