Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94426546C>A , CM000669.2:g.94426546C>A | GRCh38 |
| NC_000007.13:g.94055858C>A , CM000669.1:g.94055858C>A | GRCh37 |
| NC_000007.12:g.93893794C>A | NCBI36 |
| NG_007405.1:g.36986C>A , LRG_2:g.36986C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.3105+16C>A MANE Select | ENSP00000297268.6:n.3105+16C>A | |
| ENST00000297268.10:c.3105+16C>A | ENSP00000297268.6:n.3105+16C>A | |
| ENST00000478215.1:n.680C>A | ||
| ENST00000481570.5:n.3094C>A | ||
| ENST00000488121.1:n.21+16C>A | ||
| ENST00000620463.1:c.3099+16C>A | ENSP00000477719.1:n.3099+16C>A | |
| NM_000089.3:c.3105+16C>A , LRG_2t1:c.3105+16C>A | NP_000080.2:n.3105+16C>A | |
| NM_000089.4:c.3105+16C>A MANE Select | NP_000080.2:n.3105+16C>A |