Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186078995A>C , CM000666.2:g.186078995A>C | GRCh38 |
| NC_000004.11:g.187000149A>C , CM000666.1:g.187000149A>C | GRCh37 |
| NC_000004.10:g.187237143A>C | NCBI36 |
| NG_007278.1:g.14841A>C , LRG_117:g.14841A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003265.3:c.597A>C MANE Select | NP_003256.1:p.Leu199Phe |
| ENST00000296795.8:c.597A>C MANE Select | ENSP00000296795.3:p.Leu199Phe |
| NM_003265.2:c.597A>C , LRG_117t1:c.597A>C | NP_003256.1:p.Leu199Phe |
| ENST00000296795.7:c.597A>C | ENSP00000296795.2:p.Leu199Phe |
| ENST00000513189.1:c.597A>C | ENSP00000423386.1:p.Leu199Phe |
| ENST00000698351.1:c.597A>C | ENSP00000513674.1:p.Leu199Phe |
| ENST00000698352.1:c.*149A>C | ENSP00000513675.1:n.*149A>C |