Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399832G>C , CM000681.2:g.1399832G>C | GRCh38 |
| NC_000019.9:g.1399831G>C , CM000681.1:g.1399831G>C | GRCh37 |
| NC_000019.8:g.1350831G>C | NCBI36 |
| NG_009785.1:g.6722C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.288C>G MANE Select | ENSP00000252288.1:p.Phe96Leu | |
| ENST00000447102.8:c.288C>G | ENSP00000403536.2:p.Phe96Leu | |
| ENST00000640762.1:c.219C>G | ENSP00000492031.1:p.Phe73Leu | |
| ENST00000252288.6:c.288C>G | ENSP00000252288.1:p.Phe96Leu | |
| ENST00000447102.7:c.288C>G | ENSP00000403536.2:p.Phe96Leu | |
| NM_000156.5:c.288C>G | NP_000147.1:p.Phe96Leu | |
| NM_138924.2:c.288C>G | NP_620279.1:p.Phe96Leu | |
| NM_000156.6:c.288C>G MANE Select | NP_000147.1:p.Phe96Leu | |
| NM_138924.3:c.288C>G | NP_620279.1:p.Phe96Leu |