Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965487A= , CM000670.2:g.37965487A= | GRCh38 |
| NC_000008.10:g.37823005A= , CM000670.1:g.37823005A= | GRCh37 |
| NC_000008.9:g.37942162A= | NCBI36 |
| NG_011936.1:g.6180T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.983T= MANE Select | NP_000016.1:p.Phe328= |
| ENST00000345060.5:c.983T= MANE Select | ENSP00000343782.3:p.Phe328= |
| NM_000025.2:c.983T= | NP_000016.1:p.Phe328= |
| ENST00000345060.4:c.983T= | ENSP00000343782.3:p.Phe328= |
| ENST00000520341.1:n.258T= | |
| ENST00000520341.2:n.1111T= | |
| ENST00000614635.1:c.983T= | ENSP00000480325.1:p.Phe328= |
| ENST00000647937.1:c.467T= | ENSP00000497740.1:p.Phe156= |