Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115738256A= , CM000663.2:g.115738256A= | GRCh38 |
| NC_000001.10:g.116280877A= , CM000663.1:g.116280877A= | GRCh37 |
| NC_000001.9:g.116082400A= | NCBI36 |
| NG_008802.1:g.35550T= , LRG_404:g.35550T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001232.4:c.500T= MANE Select | NP_001223.2:p.Leu167= |
| ENST00000261448.6:c.500T= MANE Select | ENSP00000261448.5:p.Leu167= |
| NM_001232.3:c.500T= , LRG_404t1:c.500T= | NP_001223.2:p.Leu167= |
| ENST00000261448.5:c.500T= | ENSP00000261448.5:p.Leu167= |
| ENST00000488931.2:c.224T= | ENSP00000518226.1:p.Leu75= |