Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154156372T= , CM000685.2:g.154156372T= | GRCh38 |
| NC_000023.10:g.153421847T= , CM000685.1:g.153421847T= | GRCh37 |
| NC_000023.9:g.153075041T= | NCBI36 |
| NG_009105.2:g.17122T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020061.6:c.823T= MANE Select | NP_064445.2:p.Phe275= |
| ENST00000369951.9:c.823T= MANE Select | ENSP00000358967.4:p.Phe275= |
| NM_020061.5:c.823T= | NP_064445.2:p.Phe275= |
| ENST00000369951.8:c.823T= | ENSP00000358967.4:p.Phe275= |
| ENST00000442922.1:c.384+28T= | ENSP00000402493.1:n.384+28T= |
| ENST00000463296.1:n.667T= |