Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94426606C>T , CM000669.2:g.94426606C>T | GRCh38 |
| NC_000007.13:g.94055918C>T , CM000669.1:g.94055918C>T | GRCh37 |
| NC_000007.12:g.93893854C>T | NCBI36 |
| NG_007405.1:g.37046C>T , LRG_2:g.37046C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.3105+76C>T MANE Select | ENSP00000297268.6:n.3105+76C>T | |
| ENST00000297268.10:c.3105+76C>T | ENSP00000297268.6:n.3105+76C>T | |
| ENST00000478215.1:n.740C>T | ||
| ENST00000481570.5:n.3154C>T | ||
| ENST00000488121.1:n.21+76C>T | ||
| ENST00000620463.1:c.3099+76C>T | ENSP00000477719.1:n.3099+76C>T | |
| NM_000089.3:c.3105+76C>T , LRG_2t1:c.3105+76C>T | NP_000080.2:n.3105+76C>T | |
| NM_000089.4:c.3105+76C>T MANE Select | NP_000080.2:n.3105+76C>T |