Linked Data
ClinVar Variation Id:
298866
dbSNP Id:
rs539394184
gnomAD v2:
10-112771980-A-G
gnomAD v3:
10-111012222-A-G
gnomAD v4:
10-111012222-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.111012222A>G , CM000672.2:g.111012222A>G | GRCh38 |
| NC_000010.10:g.112771980A>G , CM000672.1:g.112771980A>G | GRCh37 |
| NC_000010.9:g.112761970A>G | NCBI36 |
| NG_028922.1:g.97680A>G , LRG_753:g.97680A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265277.10:c.*404A>G | ENSP00000265277.5:n.*404A>G | |
| ENST00000451838.2:c.*404A>G | ENSP00000408275.2:n.*404A>G | |
| ENST00000685059.1:c.*404A>G | ENSP00000510210.1:n.*404A>G | |
| ENST00000685613.1:c.*1149A>G | ENSP00000510564.1:n.*1149A>G | |
| ENST00000688928.1:c.*404A>G | ENSP00000509273.1:n.*404A>G | |
| ENST00000689118.1:c.*404A>G | ENSP00000510554.1:n.*404A>G | |
| ENST00000689300.1:c.*404A>G | ENSP00000510639.1:n.*404A>G | |
| ENST00000689997.1:c.*404A>G | ENSP00000510700.1:n.*404A>G | |
| ENST00000691369.1:c.*404A>G | ENSP00000509754.1:n.*404A>G | |
| ENST00000691441.1:c.*404A>G | ENSP00000509686.1:n.*404A>G | |
| ENST00000691903.1:c.*595A>G | ENSP00000510314.1:n.*595A>G | |
| ENST00000369452.9:c.*404A>G MANE Select | ENSP00000358464.5:n.*404A>G | |
| ENST00000265277.9:c.*404A>G | ENSP00000265277.5:n.*404A>G | |
| ENST00000369452.8:c.*404A>G | ENSP00000358464.4:n.*404A>G | |
| ENST00000451838.1:c.1523A>G | ENSP00000408275.1:n.1523A>G | |
| NM_001269039.1:c.*404A>G | NP_001255968.1:n.*404A>G | |
| NM_007373.3:c.*404A>G , LRG_753t1:c.*404A>G | NP_031399.2:n.*404A>G | |
| XM_011540216.1:c.*404A>G | XP_011538518.1:n.*404A>G | |
| NM_001269039.2:c.*404A>G | NP_001255968.1:n.*404A>G | |
| NM_001324336.1:c.*404A>G | NP_001311265.1:n.*404A>G | |
| NM_001324337.1:c.*404A>G | NP_001311266.1:n.*404A>G | |
| NR_136749.1:n.1565A>G | ||
| NM_007373.4:c.*404A>G MANE Select | NP_031399.2:n.*404A>G | |
| NM_001269039.3:c.*404A>G | NP_001255968.1:n.*404A>G | |
| NM_001324336.2:c.*404A>G | NP_001311265.1:n.*404A>G | |
| NM_001324337.2:c.*404A>G | NP_001311266.1:n.*404A>G | |
| NR_136749.2:n.1504A>G |