Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52845842G>C , CM000675.2:g.52845842G>C | GRCh38 |
| NC_000013.10:g.53419977G>C , CM000675.1:g.53419977G>C | GRCh37 |
| NC_000013.9:g.52317978G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338862.5:c.2341-210C>G | ENSP00000341350.4:n.2341-210C>G | |
| ENST00000377942.7:c.2595C>G MANE Select | ENSP00000367177.3:p.Phe865Leu | |
| NM_002590.3:c.2595C>G | NP_002581.2:p.Phe865Leu | |
| NM_032949.2:c.2341-210C>G | NP_116567.1:n.2341-210C>G | |
| NM_002590.4:c.2595C>G MANE Select | NP_002581.2:p.Phe865Leu | |
| NM_032949.3:c.2341-210C>G | NP_116567.1:n.2341-210C>G |