Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965833A>G , CM000670.2:g.37965833A>G | GRCh38 |
| NC_000008.10:g.37823351A>G , CM000670.1:g.37823351A>G | GRCh37 |
| NC_000008.9:g.37942508A>G | NCBI36 |
| NG_011936.1:g.5834T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.637T>C MANE Select | NP_000016.1:p.Phe213Leu |
| ENST00000345060.5:c.637T>C MANE Select | ENSP00000343782.3:p.Phe213Leu |
| NM_000025.2:c.637T>C | NP_000016.1:p.Phe213Leu |
| ENST00000345060.4:c.637T>C | ENSP00000343782.3:p.Phe213Leu |
| ENST00000520341.2:n.765T>C | |
| ENST00000614635.1:c.637T>C | ENSP00000480325.1:p.Phe213Leu |
| ENST00000647937.1:c.121T>C | ENSP00000497740.1:p.Phe41Leu |