Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924291C>G , CM000675.2:g.27924291C>G | GRCh38 |
| NC_000013.10:g.28498428C>G , CM000675.1:g.28498428C>G | GRCh37 |
| NC_000013.9:g.27396428C>G | NCBI36 |
| NG_008183.1:g.9261C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.442C>G MANE Select | ENSP00000370421.4:p.Arg148Gly | |
| ENST00000381033.4:c.442C>G | ENSP00000370421.4:p.Arg148Gly | |
| NM_000209.3:c.442C>G | NP_000200.1:p.Arg148Gly | |
| XR_941578.1:n.3569C>G | ||
| XR_941579.1:n.2168C>G | ||
| XR_941580.1:n.1084C>G | ||
| XR_941578.2:n.3581C>G | ||
| XR_941580.2:n.1096C>G | ||
| NM_000209.4:c.442C>G MANE Select | NP_000200.1:p.Arg148Gly |