Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52845844A>G , CM000675.2:g.52845844A>G | GRCh38 |
| NC_000013.10:g.53419979A>G , CM000675.1:g.53419979A>G | GRCh37 |
| NC_000013.9:g.52317980A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338862.5:c.2341-212T>C | ENSP00000341350.4:n.2341-212T>C | |
| ENST00000377942.7:c.2593T>C MANE Select | ENSP00000367177.3:p.Phe865Leu | |
| NM_002590.3:c.2593T>C | NP_002581.2:p.Phe865Leu | |
| NM_032949.2:c.2341-212T>C | NP_116567.1:n.2341-212T>C | |
| NM_002590.4:c.2593T>C MANE Select | NP_002581.2:p.Phe865Leu | |
| NM_032949.3:c.2341-212T>C | NP_116567.1:n.2341-212T>C |