Linked Data
ClinVar Variation Id:
585028
ClinVar RCV Id:
RCV000709772
dbSNP Id:
rs1024767789
gnomAD v2:
11-67377087-A-G
gnomAD v3:
11-67609616-A-G
gnomAD v4:
11-67609616-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67609616A>G , CM000673.2:g.67609616A>G | GRCh38 |
| NC_000011.9:g.67377087A>G , CM000673.1:g.67377087A>G | GRCh37 |
| NC_000011.8:g.67133663A>G | NCBI36 |
| NG_013353.1:g.7765A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.491A>G MANE Select | ENSP00000322450.6:p.Asn164Ser | |
| ENST00000647561.1:c.491A>G | ENSP00000497587.1:p.Asn164Ser | |
| ENST00000322776.10:c.491A>G | ENSP00000322450.6:p.Asn164Ser | |
| ENST00000415352.6:c.470A>G | ENSP00000395368.2:p.Asn157Ser | |
| ENST00000524838.5:n.548A>G | ||
| ENST00000525086.5:n.564A>G | ||
| ENST00000526169.1:n.233A>G | ||
| ENST00000526770.5:n.350A>G | ||
| ENST00000528377.1:n.662A>G | ||
| ENST00000529867.5:c.455A>G | ENSP00000434438.1:p.Asn152Ser | |
| ENST00000529927.5:c.464A>G | ENSP00000436766.1:p.Asn155Ser | |
| ENST00000530638.1:c.374A>G | ENSP00000436936.1:p.Asn125Ser | |
| ENST00000532244.5:c.188A>G | ENSP00000435202.1:p.Asn63Ser | |
| ENST00000532303.5:c.188A>G | ENSP00000432015.1:p.Asn63Ser | |
| ENST00000532343.5:c.188A>G | ENSP00000431751.1:p.Asn63Ser | |
| ENST00000533075.5:c.470A>G | ENSP00000437267.1:p.Asn157Ser | |
| ENST00000534139.5:n.607A>G | ||
| NM_001166102.1:c.464A>G | NP_001159574.1:p.Asn155Ser | |
| NM_007103.3:c.491A>G | NP_009034.2:p.Asn164Ser | |
| NM_001166102.2:c.464A>G | NP_001159574.1:p.Asn155Ser | |
| NM_007103.4:c.491A>G MANE Select | NP_009034.2:p.Asn164Ser |