Linked Data
dbSNP Id:
rs542676563
ExAC:
10:3823926 C / T
gnomAD v2:
10-3823926-C-T
gnomAD v3:
10-3781734-C-T
gnomAD v4:
10-3781734-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.3781734C>T , CM000672.2:g.3781734C>T | GRCh38 |
| NC_000010.10:g.3823926C>T , CM000672.1:g.3823926C>T | GRCh37 |
| NC_000010.9:g.3813926C>T | NCBI36 |
| NG_012277.1:g.8548G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000497571.6:c.583G>A MANE Select | ENSP00000419923.1:p.Gly195Ser | |
| ENST00000173785.4:n.257+61G>A | ||
| ENST00000469435.1:c.583G>A | ENSP00000419079.1:p.Gly195Ser | |
| ENST00000497571.5:c.583G>A | ENSP00000419923.1:p.Gly195Ser | |
| ENST00000542957.1:c.583G>A | ENSP00000445301.1:p.Gly195Ser | |
| NM_001160124.1:c.550+33G>A | NP_001153596.1:n.550+33G>A | |
| NM_001160125.1:c.583G>A | NP_001153597.1:p.Gly195Ser | |
| NM_001300.5:c.583G>A | NP_001291.3:p.Gly195Ser | |
| NR_027653.1:n.789+61G>A | ||
| NM_001300.6:c.583G>A MANE Select | NP_001291.3:p.Gly195Ser | |
| NM_001160124.2:c.550+33G>A | NP_001153596.1:n.550+33G>A | |
| NR_027653.2:n.717+61G>A | ||
| NM_001160125.2:c.583G>A | NP_001153597.1:p.Gly195Ser |