Linked Data
ClinVar Variation Id:
218698
dbSNP Id:
rs864309599
gnomAD v4:
10-110985730-A-G
COSMIC:
COSM4011596
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110985730A>G , CM000672.2:g.110985730A>G | GRCh38 |
| NC_000010.10:g.112745488A>G , CM000672.1:g.112745488A>G | GRCh37 |
| NC_000010.9:g.112735478A>G | NCBI36 |
| NG_028922.1:g.71188A>G , LRG_753:g.71188A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265277.10:c.704-14685A>G | ENSP00000265277.5:n.704-14685A>G | |
| ENST00000451838.2:c.-242-14685A>G | ENSP00000408275.2:n.-242-14685A>G | |
| ENST00000480155.2:n.1159A>G | ||
| ENST00000685059.1:c.806A>G | ENSP00000510210.1:p.Gln269Arg | |
| ENST00000685613.1:c.806A>G | ENSP00000510564.1:p.Gln269Arg | |
| ENST00000687592.1:n.1105A>G | ||
| ENST00000688928.1:c.806A>G | ENSP00000509273.1:p.Gln269Arg | |
| ENST00000689118.1:c.806A>G | ENSP00000510554.1:p.Gln269Arg | |
| ENST00000689300.1:c.806A>G | ENSP00000510639.1:p.Gln269Arg | |
| ENST00000689997.1:c.-278A>G | ENSP00000510700.1:n.-278A>G | |
| ENST00000691369.1:c.806A>G | ENSP00000509754.1:p.Gln269Arg | |
| ENST00000691441.1:c.806A>G | ENSP00000509686.1:p.Gln269Arg | |
| ENST00000691843.1:n.747A>G | ||
| ENST00000691903.1:c.806A>G | ENSP00000510314.1:p.Gln269Arg | |
| ENST00000692776.1:c.806A>G | ENSP00000508524.1:p.Gln269Arg | |
| ENST00000369452.9:c.806A>G MANE Select | ENSP00000358464.5:p.Gln269Arg | |
| ENST00000265277.9:c.704-14685A>G | ENSP00000265277.5:n.704-14685A>G | |
| ENST00000369452.8:c.806A>G | ENSP00000358464.4:p.Gln269Arg | |
| ENST00000451838.1:c.212-14685A>G | ENSP00000408275.1:n.212-14685A>G | |
| ENST00000489390.1:n.56-14685A>G | ||
| ENST00000497305.1:n.133A>G | ||
| NM_001269039.1:c.704-14685A>G | NP_001255968.1:n.704-14685A>G | |
| NM_007373.3:c.806A>G , LRG_753t1:c.806A>G | NP_031399.2:p.Gln269Arg | |
| XM_011540216.1:c.-278A>G | XP_011538518.1:n.-278A>G | |
| NM_001269039.2:c.704-14685A>G | NP_001255968.1:n.704-14685A>G | |
| NM_001324336.1:c.806A>G | NP_001311265.1:p.Gln269Arg | |
| NM_001324337.1:c.806A>G | NP_001311266.1:p.Gln269Arg | |
| NR_136749.1:n.218A>G | ||
| NM_007373.4:c.806A>G MANE Select | NP_031399.2:p.Gln269Arg | |
| NM_001269039.3:c.704-14685A>G | NP_001255968.1:n.704-14685A>G | |
| NM_001324336.2:c.806A>G | NP_001311265.1:p.Gln269Arg | |
| NM_001324337.2:c.806A>G | NP_001311266.1:p.Gln269Arg | |
| NR_136749.2:n.157A>G |