Linked Data
ClinVar Variation Id:
2968748
ClinVar RCV Id:
RCV003829394
dbSNP Id:
rs758299115
gnomAD v2:
19-4090606-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090608G>C , CM000681.2:g.4090608G>C | GRCh38 |
| NC_000019.9:g.4090606G>C , CM000681.1:g.4090606G>C | GRCh37 |
| NC_000019.8:g.4041606G>C | NCBI36 |
| NG_007996.1:g.38521C>G , LRG_750:g.38521C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1632C>G | ||
| ENST00000688002.1:n.3344C>G | ||
| ENST00000688751.1:n.329C>G | ||
| ENST00000689792.1:n.1097C>G | ||
| ENST00000262948.10:c.1193C>G MANE Select | ENSP00000262948.4:p.Thr398Ser | |
| ENST00000262948.9:c.1193C>G | ENSP00000262948.3:p.Thr398Ser | |
| ENST00000394867.8:c.902C>G | ENSP00000378336.1:p.Thr301Ser | |
| ENST00000597263.5:n.378C>G | ||
| ENST00000599021.1:c.303C>G | ||
| ENST00000600584.5:n.2642C>G | ||
| ENST00000601786.5:n.1494C>G | ||
| NM_030662.3:c.1193C>G , LRG_750t1:c.1193C>G | NP_109587.1:p.Thr398Ser | |
| XM_006722799.2:c.914C>G | XP_006722862.1:p.Thr305Ser | |
| XM_011528133.1:c.623C>G | XP_011526435.1:p.Thr208Ser | |
| NM_030662.4:c.1193C>G MANE Select | NP_109587.1:p.Thr398Ser |