Linked Data
ClinVar Variation Id:
717974
ClinVar RCV Id:
RCV000890850
dbSNP Id:
rs35835052
ExAC:
10:3824278 G / A
gnomAD v2:
10-3824278-G-A
gnomAD v3:
10-3782086-G-A
gnomAD v4:
10-3782086-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.3782086G>A , CM000672.2:g.3782086G>A | GRCh38 |
| NC_000010.10:g.3824278G>A , CM000672.1:g.3824278G>A | GRCh37 |
| NC_000010.9:g.3814278G>A | NCBI36 |
| NG_012277.1:g.8196C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000497571.6:c.231C>T MANE Select | ENSP00000419923.1:p.Ser77= | |
| ENST00000380946.3:n.466C>T | ||
| ENST00000469435.1:c.231C>T | ENSP00000419079.1:p.Ser77= | |
| ENST00000497571.5:c.231C>T | ENSP00000419923.1:p.Ser77= | |
| ENST00000542957.1:c.231C>T | ENSP00000445301.1:p.Ser77= | |
| NM_001160124.1:c.231C>T | NP_001153596.1:p.Ser77= | |
| NM_001160125.1:c.231C>T | NP_001153597.1:p.Ser77= | |
| NM_001300.5:c.231C>T | NP_001291.3:p.Ser77= | |
| NR_027653.1:n.498C>T | ||
| NM_001300.6:c.231C>T MANE Select | NP_001291.3:p.Ser77= | |
| NM_001160124.2:c.231C>T | NP_001153596.1:p.Ser77= | |
| NR_027653.2:n.426C>T | ||
| NM_001160125.2:c.231C>T | NP_001153597.1:p.Ser77= |