Linked Data
ClinVar Variation Id:
2058088
ClinVar RCV Id:
RCV002942161
dbSNP Id:
rs373603837
ExAC:
10:101911909 T / C
gnomAD v2:
10-101911909-T-C
gnomAD v3:
10-100152152-T-C
gnomAD v4:
10-100152152-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100152152T>C , CM000672.2:g.100152152T>C | GRCh38 |
| NC_000010.10:g.101911909T>C , CM000672.1:g.101911909T>C | GRCh37 |
| NC_000010.9:g.101901899T>C | NCBI36 |
| NG_052910.1:g.38906A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421367.7:c.1026A>G MANE Select | ENSP00000410964.2:p.Gln342= | |
| ENST00000407654.7:c.1026A>G | ENSP00000384900.3:p.Gln342= | |
| ENST00000421367.6:c.1026A>G | ENSP00000410964.2:p.Gln342= | |
| NM_001100626.1:c.1026A>G | NP_001094096.1:p.Gln342= | |
| NM_006459.3:c.1026A>G | NP_006450.2:p.Gln342= | |
| XM_005269442.2:c.1026A>G | XP_005269499.1:p.Gln342= | |
| XM_011539170.1:c.774A>G | XP_011537472.1:p.Gln258= | |
| NM_001347856.1:c.774A>G | NP_001334785.1:p.Gln258= | |
| NM_001347857.1:c.1026A>G | NP_001334786.1:p.Gln342= | |
| NM_001347858.1:c.546A>G | NP_001334787.1:p.Gln182= | |
| NM_001347859.1:c.1026A>G | NP_001334788.1:p.Gln342= | |
| NM_001347860.1:c.1026A>G | NP_001334789.1:p.Gln342= | |
| NM_001347861.1:c.1026A>G | NP_001334790.1:p.Gln342= | |
| NR_144755.1:n.1123A>G | ||
| NR_144756.1:n.1074A>G | ||
| NR_144757.1:n.1096A>G | ||
| NR_144758.1:n.1205A>G | ||
| NR_144759.1:n.1183A>G | ||
| NR_144760.1:n.1157A>G | ||
| NM_006459.4:c.1026A>G MANE Select | NP_006450.2:p.Gln342= | |
| NM_001100626.2:c.1026A>G | NP_001094096.1:p.Gln342= | |
| NM_001347856.2:c.774A>G | NP_001334785.1:p.Gln258= | |
| NM_001347857.2:c.1026A>G | NP_001334786.1:p.Gln342= | |
| NM_001347858.2:c.546A>G | NP_001334787.1:p.Gln182= | |
| NM_001347859.2:c.1026A>G | NP_001334788.1:p.Gln342= | |
| NM_001347860.2:c.1026A>G | NP_001334789.1:p.Gln342= | |
| NM_001347861.2:c.1026A>G | NP_001334790.1:p.Gln342= | |
| NR_144755.2:n.1095A>G | ||
| NR_144756.2:n.1046A>G | ||
| NR_144757.2:n.1068A>G | ||
| NR_144758.2:n.1177A>G | ||
| NR_144759.2:n.1235A>G | ||
| NR_144760.2:n.1209A>G |