Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625394C>G , CM000673.2:g.22625394C>G | GRCh38 |
| NC_000011.9:g.22646940C>G , CM000673.1:g.22646940C>G | GRCh37 |
| NC_000011.8:g.22603516C>G | NCBI36 |
| NG_007425.1:g.5448G>C , LRG_527:g.5448G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.417G>C MANE Select | ENSP00000330875.3:p.Arg139= | |
| ENST00000327470.4:c.417G>C | ENSP00000330875.3:p.Arg139= | |
| NM_022725.3:c.417G>C , LRG_527t1:c.417G>C | NP_073562.1:p.Arg139= | |
| NM_022725.4:c.417G>C MANE Select | NP_073562.1:p.Arg139= |