Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135812354T>A , CM000664.2:g.135812354T>A | GRCh38 |
| NC_000002.11:g.136569924T>A , CM000664.1:g.136569924T>A | GRCh37 |
| NC_000002.10:g.136286394T>A | NCBI36 |
| NG_008104.2:g.47816A>T , LRG_338:g.47816A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002299.4:c.2310A>T MANE Select | NP_002290.2:p.Leu770Phe |
| ENST00000264162.7:c.2310A>T MANE Select | ENSP00000264162.2:p.Leu770Phe |
| NM_002299.2:c.2310A>T , LRG_338t1:c.2310A>T | NP_002290.2:p.Leu770Phe |
| NM_002299.3:c.2310A>T | NP_002290.2:p.Leu770Phe |
| ENST00000264162.6:c.2310A>T | ENSP00000264162.2:p.Leu770Phe |
| ENST00000452974.1:c.606A>T | ENSP00000391231.1:p.Leu202Phe |
| XM_017004088.2:c.2310A>T | XP_016859577.1:p.Leu770Phe |