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