Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.93829734G>C , CM000666.2:g.93829734G>C | GRCh38 |
| NC_000004.11:g.94750885G>C , CM000666.1:g.94750885G>C | GRCh37 |
| NC_000004.10:g.94969908G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306011.6:c.808G>C MANE Select | ENSP00000302216.4:p.Gly270Arg | |
| ENST00000306011.4:c.808G>C | ENSP00000302216.3:p.Gly270Arg | |
| NM_005172.1:c.808G>C | NP_005163.1:p.Gly270Arg | |
| NM_005172.2:c.808G>C MANE Select | NP_005163.1:p.Gly270Arg |