Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110438644A>G , CM000675.2:g.110438644A>G | GRCh38 |
| NC_000013.10:g.111090991A>G , CM000675.1:g.111090991A>G | GRCh37 |
| NC_000013.9:g.109888992A>G | NCBI36 |
| NG_032137.1:g.136361A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360467.7:c.888A>G MANE Select | ENSP00000353654.5:p.Gly296= | |
| ENST00000617564.2:c.145A>G | ||
| ENST00000650540.1:c.888A>G | ENSP00000497878.1:p.Gly296= | |
| ENST00000360467.5:c.888A>G | ENSP00000353654.5:p.Gly296= | |
| NM_001846.2:c.888A>G | NP_001837.2:p.Gly296= | |
| NM_001846.3:c.888A>G | NP_001837.2:p.Gly296= | |
| NM_001846.4:c.888A>G MANE Select | NP_001837.2:p.Gly296= |