Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45989102G>C , CM000683.2:g.45989102G>C | GRCh38 |
| NC_000021.8:g.47409016G>C , CM000683.1:g.47409016G>C | GRCh37 |
| NC_000021.7:g.46233444G>C | NCBI36 |
| NG_008674.1:g.12354G>C , LRG_475:g.12354G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.823G>C MANE Select | NP_001839.2:p.Gly275Arg |
| ENST00000361866.8:c.823G>C MANE Select | ENSP00000355180.3:p.Gly275Arg |
| NM_001848.2:c.823G>C , LRG_475t1:c.823G>C | NP_001839.2:p.Gly275Arg |
| ENST00000361866.7:c.823G>C | ENSP00000355180.3:p.Gly275Arg |
| ENST00000612273.1:c.823G>C | ENSP00000483630.1:p.Gly275Arg |