Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40557795C= , CM000675.2:g.40557795C= | GRCh38 |
| NC_000013.10:g.41131932C= , CM000675.1:g.41131932C= | GRCh37 |
| NC_000013.9:g.40029932C= | NCBI36 |
| NG_023244.1:g.113803G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002015.4:c.*1254G= MANE Select | NP_002006.2:n.*1254G= |
| ENST00000379561.6:c.*1254G= MANE Select | ENSP00000368880.4:n.*1254G= |
| NM_002015.3:c.*1254G= | NP_002006.2:n.*1254G= |
| ENST00000379561.5:c.*1254G= | ENSP00000368880.4:n.*1254G= |
| XM_011535008.1:c.*1254G= | XP_011533310.1:n.*1254G= |
| XM_011535008.2:c.*1254G= | XP_011533310.1:n.*1254G= |
| XM_011535009.1:c.*1254G= | XP_011533311.1:n.*1254G= |
| XM_011535010.1:c.*1254G= | XP_011533312.1:n.*1254G= |
| XM_011535010.2:c.*1254G= | XP_011533312.1:n.*1254G= |