Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.129980725G>C , CM000664.2:g.129980725G>C | GRCh38 |
| NC_000002.11:g.130738298G>C , CM000664.1:g.130738298G>C | GRCh37 |
| NC_000002.10:g.130454768G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410061.4:c.610G>C MANE Select | ENSP00000387307.2:p.Gly204Arg | |
| ENST00000410061.3:c.610G>C | ENSP00000387307.2:p.Gly204Arg | |
| NM_032144.2:c.610G>C | NP_115520.2:p.Gly204Arg | |
| NM_032144.3:c.610G>C MANE Select | NP_115520.2:p.Gly204Arg |