Linked Data
ClinVar Variation Id:
1637266
ClinVar RCV Id:
RCV002131094
dbSNP Id:
rs1240077501
gnomAD v2:
10-101935686-G-C
gnomAD v3:
10-100175929-G-C
gnomAD v4:
10-100175929-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100175929G>C , CM000672.2:g.100175929G>C | GRCh38 |
| NC_000010.10:g.101935686G>C , CM000672.1:g.101935686G>C | GRCh37 |
| NC_000010.9:g.101925676G>C | NCBI36 |
| NG_052910.1:g.15129C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421367.7:c.430+16C>G MANE Select | ENSP00000410964.2:n.430+16C>G | |
| ENST00000370408.2:c.430+16C>G | ENSP00000359436.2:n.430+16C>G | |
| ENST00000407654.7:c.430+16C>G | ENSP00000384900.3:n.430+16C>G | |
| ENST00000421367.6:c.430+16C>G | ENSP00000410964.2:n.430+16C>G | |
| NM_001100626.1:c.430+16C>G | NP_001094096.1:n.430+16C>G | |
| NM_006459.3:c.430+16C>G | NP_006450.2:n.430+16C>G | |
| XM_005269442.2:c.430+16C>G | XP_005269499.1:n.430+16C>G | |
| XM_011539170.1:c.178+16C>G | XP_011537472.1:n.178+16C>G | |
| XM_011539171.1:c.430+16C>G | XP_011537473.1:n.430+16C>G | |
| NM_001347856.1:c.178+16C>G | NP_001334785.1:n.178+16C>G | |
| NM_001347857.1:c.430+16C>G | NP_001334786.1:n.430+16C>G | |
| NM_001347858.1:c.-51+16C>G | NP_001334787.1:n.-51+16C>G | |
| NM_001347859.1:c.430+16C>G | NP_001334788.1:n.430+16C>G | |
| NM_001347860.1:c.430+16C>G | NP_001334789.1:n.430+16C>G | |
| NM_001347861.1:c.430+16C>G | NP_001334790.1:n.430+16C>G | |
| NR_144755.1:n.455+16C>G | ||
| NR_144756.1:n.537+16C>G | ||
| NR_144757.1:n.428+16C>G | ||
| NR_144758.1:n.537+16C>G | ||
| NR_144759.1:n.515+16C>G | ||
| NR_144760.1:n.620+16C>G | ||
| NM_006459.4:c.430+16C>G MANE Select | NP_006450.2:n.430+16C>G | |
| NM_001100626.2:c.430+16C>G | NP_001094096.1:n.430+16C>G | |
| NM_001347856.2:c.178+16C>G | NP_001334785.1:n.178+16C>G | |
| NM_001347857.2:c.430+16C>G | NP_001334786.1:n.430+16C>G | |
| NM_001347858.2:c.-51+16C>G | NP_001334787.1:n.-51+16C>G | |
| NM_001347859.2:c.430+16C>G | NP_001334788.1:n.430+16C>G | |
| NM_001347860.2:c.430+16C>G | NP_001334789.1:n.430+16C>G | |
| NM_001347861.2:c.430+16C>G | NP_001334790.1:n.430+16C>G | |
| NR_144755.2:n.427+16C>G | ||
| NR_144756.2:n.509+16C>G | ||
| NR_144757.2:n.400+16C>G | ||
| NR_144758.2:n.509+16C>G | ||
| NR_144759.2:n.567+16C>G | ||
| NR_144760.2:n.672+16C>G |