Linked Data
ClinVar Variation Id:
801893
dbSNP Id:
rs2372536
ExAC:
2:216190020 C / G
gnomAD v2:
2-216190020-C-G
gnomAD v3:
2-215325297-C-G
gnomAD v4:
2-215325297-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215325297C>G , CM000664.2:g.215325297C>G | GRCh38 |
| NC_000002.11:g.216190020C>G , CM000664.1:g.216190020C>G | GRCh37 |
| NC_000002.10:g.215898265C>G | NCBI36 |
| NG_013002.1:g.18342C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000236959.14:c.347C>G MANE Select | ENSP00000236959.9:p.Thr116Ser | |
| ENST00000236959.13:c.347C>G | ENSP00000236959.9:p.Thr116Ser | |
| ENST00000413174.1:c.170C>G | ENSP00000402393.1:p.Thr57Ser | |
| ENST00000427397.5:c.*397C>G | ENSP00000394317.1:n.*397C>G | |
| ENST00000435675.5:c.344C>G | ENSP00000415935.1:p.Thr115Ser | |
| ENST00000443953.5:c.*444C>G | ENSP00000406792.1:n.*444C>G | |
| ENST00000444305.5:c.*25C>G | ENSP00000388675.1:n.*25C>G | |
| ENST00000488712.5:n.559C>G | ||
| NM_004044.6:c.347C>G | NP_004035.2:p.Thr116Ser | |
| XM_017004187.2:c.347C>G | XP_016859676.1:p.Thr116Ser | |
| XM_024452919.1:c.170C>G | XP_024308687.1:p.Thr57Ser | |
| NM_004044.7:c.347C>G MANE Select | NP_004035.2:p.Thr116Ser |