Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20881116A>G , CM000684.2:g.20881116A>G | GRCh38 |
| NC_000022.10:g.21235404A>G , CM000684.1:g.21235404A>G | GRCh37 |
| NC_000022.9:g.19565404A>G | NCBI36 |
| NG_012152.1:g.27113A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000215730.12:c.502A>G MANE Select | ENSP00000215730.6:p.Arg168Gly | |
| ENST00000215730.11:c.502A>G | ENSP00000215730.6:p.Arg168Gly | |
| ENST00000439214.1:c.223A>G | ENSP00000411095.1:p.Arg75Gly | |
| NM_004782.3:c.502A>G | NP_004773.1:p.Arg168Gly | |
| NM_004782.4:c.502A>G MANE Select | NP_004773.1:p.Arg168Gly |