Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94426567C>A , CM000669.2:g.94426567C>A | GRCh38 |
| NC_000007.13:g.94055879C>A , CM000669.1:g.94055879C>A | GRCh37 |
| NC_000007.12:g.93893815C>A | NCBI36 |
| NG_007405.1:g.37007C>A , LRG_2:g.37007C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.3105+37C>A MANE Select | ENSP00000297268.6:n.3105+37C>A | |
| ENST00000297268.10:c.3105+37C>A | ENSP00000297268.6:n.3105+37C>A | |
| ENST00000478215.1:n.701C>A | ||
| ENST00000481570.5:n.3115C>A | ||
| ENST00000488121.1:n.21+37C>A | ||
| ENST00000620463.1:c.3099+37C>A | ENSP00000477719.1:n.3099+37C>A | |
| NM_000089.3:c.3105+37C>A , LRG_2t1:c.3105+37C>A | NP_000080.2:n.3105+37C>A | |
| NM_000089.4:c.3105+37C>A MANE Select | NP_000080.2:n.3105+37C>A |