Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99845658C>G , CM000672.2:g.99845658C>G | GRCh38 |
| NC_000010.10:g.101605415C>G , CM000672.1:g.101605415C>G | GRCh37 |
| NC_000010.9:g.101595405C>G | NCBI36 |
| NG_011798.1:g.67953C>G | |
| NG_011798.2:g.68061C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.4022C>G MANE Select | ENSP00000497274.1:p.Ser1341Ter | |
| ENST00000649459.1:n.370C>G | ||
| ENST00000370449.8:c.4022C>G | ENSP00000359478.4:p.Ser1341Ter | |
| NM_000392.4:c.4022C>G | NP_000383.1:p.Ser1341Ter | |
| XM_006717630.2:c.3326C>G | XP_006717693.1:p.Ser1109Ter | |
| XR_945604.1:n.4177-25C>G | ||
| XR_945605.1:n.4086C>G | ||
| NM_000392.5:c.4022C>G MANE Select | NP_000383.2:p.Ser1341Ter | |
| XM_006717630.3:c.3326C>G | XP_006717693.1:p.Ser1109Ter | |
| XR_945604.3:n.4231-25C>G | ||
| XR_945605.3:n.4138C>G |