Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6595077C>T , CM000671.2:g.6595077C>T | GRCh38 |
| NC_000009.11:g.6595077C>T , CM000671.1:g.6595077C>T | GRCh37 |
| NC_000009.10:g.6585077C>T | NCBI36 |
| NG_016397.1:g.55616G>A , LRG_643:g.55616G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1198G>A MANE Select | ENSP00000370737.4:p.Gly400Ser | |
| ENST00000638654.1:c.445G>A | ENSP00000491101.1:p.Gly149Ser | |
| ENST00000639364.1:n.898G>A | ||
| ENST00000639443.1:n.766G>A | ||
| ENST00000639493.1:n.350G>A | ||
| ENST00000639954.1:n.906G>A | ||
| ENST00000640592.1:n.1081G>A | ||
| ENST00000321612.6:c.1198G>A | ENSP00000370737.3:p.Gly400Ser | |
| ENST00000463305.1:n.282G>A | ||
| NM_000170.2:c.1198G>A , LRG_643t1:c.1198G>A | NP_000161.2:p.Gly400Ser | |
| NM_000170.3:c.1198G>A MANE Select | NP_000161.2:p.Gly400Ser |