Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49510457C>T , CM000679.2:g.49510457C>T | GRCh38 |
| NC_000017.10:g.47587819C>T , CM000679.1:g.47587819C>T | GRCh37 |
| NC_000017.9:g.44942818C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002507.4:c.614C>T (NGFR) MANE Select | NP_002498.1:p.Ser205Leu |
| ENST00000172229.8:c.614C>T (NGFR) MANE Select | ENSP00000172229.3:p.Ser205Leu |
| NM_002507.3:c.614C>T (NGFR) | NP_002498.1:p.Ser205Leu |
| NR_103773.1:n.377+526G>A (NGFR-AS1) | |
| ENST00000172229.7:c.614C>T (NGFR) | ENSP00000172229.3:p.Ser205Leu |
| ENST00000504201.1:c.332C>T (NGFR) | ENSP00000421731.1:p.Ser111Leu |