Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94420648T>C , CM000669.2:g.94420648T>C | GRCh38 |
| NC_000007.13:g.94049960T>C , CM000669.1:g.94049960T>C | GRCh37 |
| NC_000007.12:g.93887896T>C | NCBI36 |
| NG_007405.1:g.31088T>C , LRG_2:g.31088T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.2295T>C MANE Select | NP_000080.2:p.Ala765= |
| ENST00000297268.11:c.2295T>C MANE Select | ENSP00000297268.6:p.Ala765= |
| NM_000089.3:c.2295T>C , LRG_2t1:c.2295T>C | NP_000080.2:p.Ala765= |
| ENST00000297268.10:c.2295T>C | ENSP00000297268.6:p.Ala765= |
| ENST00000461525.5:n.384T>C | |
| ENST00000467931.1:n.315T>C | |
| ENST00000473573.5:n.632T>C | |
| ENST00000497316.5:n.692T>C | |
| ENST00000620463.1:c.2289T>C | ENSP00000477719.1:p.Ala763= |