Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135812371G>T , CM000664.2:g.135812371G>T | GRCh38 |
| NC_000002.11:g.136569941G>T , CM000664.1:g.136569941G>T | GRCh37 |
| NC_000002.10:g.136286411G>T | NCBI36 |
| NG_008104.2:g.47799C>A , LRG_338:g.47799C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002299.4:c.2293C>A MANE Select | NP_002290.2:p.Leu765Ile |
| ENST00000264162.7:c.2293C>A MANE Select | ENSP00000264162.2:p.Leu765Ile |
| NM_002299.2:c.2293C>A , LRG_338t1:c.2293C>A | NP_002290.2:p.Leu765Ile |
| NM_002299.3:c.2293C>A | NP_002290.2:p.Leu765Ile |
| ENST00000264162.6:c.2293C>A | ENSP00000264162.2:p.Leu765Ile |
| ENST00000452974.1:c.589C>A | ENSP00000391231.1:p.Leu197Ile |
| XM_017004088.2:c.2293C>A | XP_016859577.1:p.Leu765Ile |