Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739722A>C , CM000670.2:g.86739722A>C | GRCh38 |
| NC_000008.10:g.87751950A>C , CM000670.1:g.87751950A>C | GRCh37 |
| NC_000008.9:g.87821066A>C | NCBI36 |
| NG_016980.1:g.8954T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.144T>G MANE Select | ENSP00000316605.5:p.Gly48= | |
| ENST00000681746.1:c.144T>G | ENSP00000505959.1:p.Gly48= | |
| ENST00000320005.5:c.144T>G | ENSP00000316605.5:p.Gly48= | |
| ENST00000519777.1:n.126T>G | ||
| NM_019098.4:c.144T>G | NP_061971.3:p.Gly48= | |
| NM_019098.5:c.144T>G MANE Select | NP_061971.3:p.Gly48= |