Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188974528C>G , CM000664.2:g.188974528C>G | GRCh38 |
| NC_000002.11:g.189839254C>G , CM000664.1:g.189839254C>G | GRCh37 |
| NC_000002.10:g.189547499C>G | NCBI36 |
| NG_007404.1:g.5156C>G , LRG_3:g.5156C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.39C>G | ENSP00000415346.2:p.Leu13= | |
| ENST00000304636.9:c.39C>G MANE Select | ENSP00000304408.4:p.Leu13= | |
| ENST00000304636.7:c.39C>G | ENSP00000304408.3:p.Leu13= | |
| ENST00000317840.9:c.39C>G | ENSP00000315243.6:p.Leu13= | |
| ENST00000470167.1:n.135C>G | ||
| NM_000090.3:c.39C>G , LRG_3t1:c.39C>G | NP_000081.1:p.Leu13= | |
| XR_923687.1:n.1795-4049G>C | ||
| XR_923688.1:n.1795-4049G>C | ||
| XR_923689.1:n.90-4049G>C | ||
| XR_923689.3:n.85-4049G>C | ||
| NM_000090.4:c.39C>G MANE Select | NP_000081.2:p.Leu13= |