Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65169650C>A , CM000674.2:g.65169650C>A | GRCh38 |
| NC_000012.11:g.65563430C>A , CM000674.1:g.65563430C>A | GRCh37 |
| NC_000012.10:g.63849697C>A | NCBI36 |
| NG_016210.1:g.5080C>A | |
| NG_016210.2:g.5080C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014319.5:c.54C>A MANE Select | NP_055134.2:p.Phe18Leu |
| ENST00000308330.3:c.54C>A MANE Select | ENSP00000308369.2:p.Phe18Leu |
| NM_001167614.1:c.54C>A | NP_001161086.1:p.Phe18Leu |
| NM_001167614.2:c.54C>A | NP_001161086.1:p.Phe18Leu |
| NM_014319.4:c.54C>A | NP_055134.2:p.Phe18Leu |
| ENST00000308330.2:c.54C>A | ENSP00000308369.2:p.Phe18Leu |
| ENST00000541171.1:n.68C>A |