Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186079010G= , CM000666.2:g.186079010G= | GRCh38 |
| NC_000004.11:g.187000164G= , CM000666.1:g.187000164G= | GRCh37 |
| NC_000004.10:g.187237158G= | NCBI36 |
| NG_007278.1:g.14856G= , LRG_117:g.14856G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003265.3:c.612G= MANE Select | NP_003256.1:p.Leu204= |
| ENST00000296795.8:c.612G= MANE Select | ENSP00000296795.3:p.Leu204= |
| NM_003265.2:c.612G= , LRG_117t1:c.612G= | NP_003256.1:p.Leu204= |
| ENST00000296795.7:c.612G= | ENSP00000296795.2:p.Leu204= |
| ENST00000513189.1:c.612G= | ENSP00000423386.1:p.Leu204= |
| ENST00000698351.1:c.612G= | ENSP00000513674.1:p.Leu204= |
| ENST00000698352.1:c.*164G= | ENSP00000513675.1:n.*164G= |