Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46889507C>G , CM000673.2:g.46889507C>G | GRCh38 |
| NC_000011.9:g.46911058C>G , CM000673.1:g.46911058C>G | GRCh37 |
| NC_000011.8:g.46867634C>G | NCBI36 |
| NG_021394.1:g.34116G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.2119G>C MANE Select | ENSP00000367888.1:p.Gly707Arg | |
| ENST00000378623.5:c.2119G>C | ENSP00000367888.1:p.Gly707Arg | |
| ENST00000529921.1:n.181G>C | ||
| NM_002334.3:c.2119G>C | NP_002325.2:p.Gly707Arg | |
| XM_011520102.1:c.2332G>C | XP_011518404.1:p.Gly778Arg | |
| XM_011520103.1:c.1315G>C | XP_011518405.1:p.Gly439Arg | |
| XM_011520103.2:c.1315G>C | XP_011518405.1:p.Gly439Arg | |
| XM_017017734.1:c.2119G>C | XP_016873223.1:p.Gly707Arg | |
| NM_002334.4:c.2119G>C MANE Select | NP_002325.2:p.Gly707Arg |