Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41747490G>C , CM000666.2:g.41747490G>C | GRCh38 |
| NC_000004.11:g.41749507G>C , CM000666.1:g.41749507G>C | GRCh37 |
| NC_000004.10:g.41444264G>C | NCBI36 |
| NG_008243.1:g.6481C>G , LRG_513:g.6481C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.288C>G MANE Select | ENSP00000226382.2:p.Arg96= | |
| ENST00000226382.3:c.288C>G | ENSP00000226382.2:p.Arg96= | |
| ENST00000510424.2:n.109C>G | ||
| NM_003924.3:c.288C>G , LRG_513t1:c.288C>G | NP_003915.2:p.Arg96= | |
| NM_003924.4:c.288C>G MANE Select | NP_003915.2:p.Arg96= |