Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94427714G= , CM000669.2:g.94427714G= | GRCh38 |
| NC_000007.13:g.94057026G= , CM000669.1:g.94057026G= | GRCh37 |
| NC_000007.12:g.93894962G= | NCBI36 |
| NG_007405.1:g.38154G= , LRG_2:g.38154G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.3355G= MANE Select | NP_000080.2:p.Ala1119= |
| ENST00000297268.11:c.3355G= MANE Select | ENSP00000297268.6:p.Ala1119= |
| NM_000089.3:c.3355G= , LRG_2t1:c.3355G= | NP_000080.2:p.Ala1119= |
| ENST00000297268.10:c.3355G= | ENSP00000297268.6:p.Ala1119= |
| ENST00000464916.1:n.403G= | |
| ENST00000481570.5:n.4136G= | |
| ENST00000620463.1:c.3349G= | ENSP00000477719.1:p.Ala1117= |