Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225713T>C , CM000668.2:g.3225713T>C | GRCh38 |
| NC_000006.11:g.3225947T>C , CM000668.1:g.3225947T>C | GRCh37 |
| NC_000006.10:g.3170946T>C | NCBI36 |
| NG_016715.1:g.7022A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.376A>G MANE Select | ENSP00000259818.6:p.Ser126Gly | |
| ENST00000680070.1:n.1306A>G | ||
| ENST00000681707.1:n.1203A>G | ||
| ENST00000681757.1:n.681A>G | ||
| ENST00000259818.7:c.376A>G | ENSP00000259818.6:p.Ser126Gly | |
| ENST00000473006.1:n.493A>G | ||
| NM_178012.4:c.376A>G | NP_821080.1:p.Ser126Gly | |
| XM_011514571.1:c.160A>G | XP_011512873.1:p.Ser54Gly | |
| NM_178012.5:c.376A>G MANE Select | NP_821080.1:p.Ser126Gly |