Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585219T>G , CM000673.2:g.67585219T>G | GRCh38 |
| NC_000011.9:g.67352690T>G , CM000673.1:g.67352690T>G | GRCh37 |
| NC_000011.8:g.67109266T>G | NCBI36 |
| NG_012075.1:g.6625T>G , LRG_723:g.6625T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398603.6:c.314T>G | ENSP00000381604.1:p.Ile105Ser | |
| ENST00000398606.10:c.314T>G MANE Select | ENSP00000381607.3:p.Ile105Ser | |
| ENST00000646888.1:c.*30T>G | ENSP00000494477.1:n.*30T>G | |
| ENST00000398603.5:c.314T>G | ENSP00000381604.1:p.Ile105Ser | |
| ENST00000398606.7:c.314T>G | ENSP00000381607.3:p.Ile105Ser | |
| ENST00000467591.1:n.425T>G | ||
| ENST00000494593.1:n.1109T>G | ||
| ENST00000498765.5:c.377T>G | ||
| NM_000852.3:c.314T>G , LRG_723t1:c.314T>G | NP_000843.1:p.Ile105Ser | |
| NM_000852.4:c.314T>G MANE Select | NP_000843.1:p.Ile105Ser |