Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94406232A>G , CM000669.2:g.94406232A>G | GRCh38 |
| NC_000007.13:g.94035544A>G , CM000669.1:g.94035544A>G | GRCh37 |
| NC_000007.12:g.93873480A>G | NCBI36 |
| NG_007405.1:g.16672A>G , LRG_2:g.16672A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.541-18A>G MANE Select | NP_000080.2:n.541-18A>G |
| ENST00000297268.11:c.541-18A>G MANE Select | ENSP00000297268.6:n.541-18A>G |
| NM_000089.3:c.541-18A>G , LRG_2t1:c.541-18A>G | NP_000080.2:n.541-18A>G |
| ENST00000297268.10:c.541-18A>G | ENSP00000297268.6:n.541-18A>G |
| ENST00000620463.1:c.535-18A>G | ENSP00000477719.1:n.535-18A>G |