Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94418498G>T , CM000669.2:g.94418498G>T | GRCh38 |
| NC_000007.13:g.94047810G>T , CM000669.1:g.94047810G>T | GRCh37 |
| NC_000007.12:g.93885746G>T | NCBI36 |
| NG_007405.1:g.28938G>T , LRG_2:g.28938G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.1972-1G>T MANE Select | NP_000080.2:n.1972-1G>T |
| ENST00000297268.11:c.1972-1G>T MANE Select | ENSP00000297268.6:n.1972-1G>T |
| NM_000089.3:c.1972-1G>T , LRG_2t1:c.1972-1G>T | NP_000080.2:n.1972-1G>T |
| ENST00000297268.10:c.1972-1G>T | ENSP00000297268.6:n.1972-1G>T |
| ENST00000461525.5:n.61-1G>T | |
| ENST00000473573.5:n.309-1G>T | |
| ENST00000497316.5:n.369-1G>T | |
| ENST00000620463.1:c.1966-1G>T | ENSP00000477719.1:n.1966-1G>T |