Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88639872A>G , CM000678.2:g.88639872A>G | GRCh38 |
| NC_000016.9:g.88706280A>G , CM000678.1:g.88706280A>G | GRCh37 |
| NC_000016.8:g.87233781A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244241.5:c.394A>G MANE Select | ENSP00000244241.4:p.Arg132Gly | |
| ENST00000244241.4:c.394A>G | ENSP00000244241.4:p.Arg132Gly | |
| ENST00000569133.1:n.778A>G | ||
| NM_013278.3:c.394A>G | NP_037410.1:p.Arg132Gly | |
| NM_013278.4:c.394A>G MANE Select | NP_037410.1:p.Arg132Gly |