Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94404538T>C , CM000669.2:g.94404538T>C | GRCh38 |
| NC_000007.13:g.94033850T>C , CM000669.1:g.94033850T>C | GRCh37 |
| NC_000007.12:g.93871786T>C | NCBI36 |
| NG_007405.1:g.14978T>C , LRG_2:g.14978T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.280-18T>C MANE Select | NP_000080.2:n.280-18T>C |
| ENST00000297268.11:c.280-18T>C MANE Select | ENSP00000297268.6:n.280-18T>C |
| NM_000089.3:c.280-18T>C , LRG_2t1:c.280-18T>C | NP_000080.2:n.280-18T>C |
| ENST00000297268.10:c.280-18T>C | ENSP00000297268.6:n.280-18T>C |
| ENST00000620463.1:c.274-18T>C | ENSP00000477719.1:n.274-18T>C |