Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49451741C>A , CM000668.2:g.49451741C>A | GRCh38 |
| NC_000006.11:g.49419454C>A , CM000668.1:g.49419454C>A | GRCh37 |
| NC_000006.10:g.49527413C>A | NCBI36 |
| NG_007100.1:g.16399G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.1084-27G>T MANE Select | ENSP00000274813.3:n.1084-27G>T | |
| ENST00000274813.3:c.1084-27G>T | ENSP00000274813.3:n.1084-27G>T | |
| NM_000255.3:c.1084-27G>T | NP_000246.2:n.1084-27G>T | |
| XM_005249143.2:c.1084-27G>T | XP_005249200.1:n.1084-27G>T | |
| XM_005249143.3:c.1084-27G>T | XP_005249200.1:n.1084-27G>T | |
| NM_000255.4:c.1084-27G>T MANE Select | NP_000246.2:n.1084-27G>T |