Linked Data
ClinVar Variation Id:
135723
dbSNP Id:
rs587780606
ExAC:
5:112179453 G / A
gnomAD v2:
5-112179453-G-A
gnomAD v3:
5-112843756-G-A
gnomAD v4:
5-112843756-G-A
COSMIC:
COSM5990137
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843756G>A , CM000667.2:g.112843756G>A | GRCh38 |
| NC_000005.9:g.112179453G>A , CM000667.1:g.112179453G>A | GRCh37 |
| NC_000005.8:g.112207352G>A | NCBI36 |
| NG_008481.4:g.156236G>A , LRG_130:g.156236G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.8216G>A | ENSP00000473355.2:p.Arg2739His | |
| ENST00000505350.2:c.*8168G>A | ENSP00000481752.1:n.*8168G>A | |
| ENST00000507379.6:c.8108G>A | ENSP00000423224.2:p.Arg2703His | |
| ENST00000509732.6:c.8162G>A | ENSP00000426541.2:p.Arg2721His | |
| ENST00000512211.7:c.8162G>A | ENSP00000423828.3:p.Arg2721His | |
| ENST00000257430.9:c.8162G>A MANE Select | ENSP00000257430.4:p.Arg2721His | |
| ENST00000257430.8:c.8162G>A | ENSP00000257430.4:p.Arg2721His | |
| ENST00000508376.6:c.8162G>A | ENSP00000427089.2:p.Arg2721His | |
| ENST00000520401.1:c.231-12893G>A | ||
| NM_000038.5:c.8162G>A | NP_000029.2:p.Arg2721His | |
| NM_001127510.2:c.8162G>A | NP_001120982.1:p.Arg2721His | |
| NM_001127511.2:c.8108G>A | NP_001120983.2:p.Arg2703His | |
| NM_001354895.1:c.8162G>A | NP_001341824.1:p.Arg2721His | |
| NM_001354896.1:c.8216G>A | NP_001341825.1:p.Arg2739His | |
| NM_001354897.1:c.8192G>A | NP_001341826.1:p.Arg2731His | |
| NM_001354898.1:c.8087G>A | NP_001341827.1:p.Arg2696His | |
| NM_001354899.1:c.8078G>A | NP_001341828.1:p.Arg2693His | |
| NM_001354900.1:c.8039G>A | NP_001341829.1:p.Arg2680His | |
| NM_001354901.1:c.7985G>A | NP_001341830.1:p.Arg2662His | |
| NM_001354902.1:c.7889G>A | NP_001341831.1:p.Arg2630His | |
| NM_001354903.1:c.7859G>A | NP_001341832.1:p.Arg2620His | |
| NM_001354904.1:c.7784G>A | NP_001341833.1:p.Arg2595His | |
| NM_001354905.1:c.7682G>A | NP_001341834.1:p.Arg2561His | |
| NM_001354906.1:c.7313G>A | NP_001341835.1:p.Arg2438His | |
| NM_000038.6:c.8162G>A MANE Select | NP_000029.2:p.Arg2721His | |
| NM_001127510.3:c.8162G>A | NP_001120982.1:p.Arg2721His | |
| NM_001127511.3:c.8108G>A | NP_001120983.2:p.Arg2703His | |
| NM_001354895.2:c.8162G>A | NP_001341824.1:p.Arg2721His | |
| NM_001354896.2:c.8216G>A | NP_001341825.1:p.Arg2739His | |
| NM_001354897.2:c.8192G>A | NP_001341826.1:p.Arg2731His | |
| NM_001354898.2:c.8087G>A | NP_001341827.1:p.Arg2696His | |
| NM_001354899.2:c.8078G>A | NP_001341828.1:p.Arg2693His | |
| NM_001354900.2:c.8039G>A | NP_001341829.1:p.Arg2680His | |
| NM_001354901.2:c.7985G>A | NP_001341830.1:p.Arg2662His | |
| NM_001354902.2:c.7889G>A | NP_001341831.1:p.Arg2630His | |
| NM_001354903.2:c.7859G>A | NP_001341832.1:p.Arg2620His | |
| NM_001354904.2:c.7784G>A | NP_001341833.1:p.Arg2595His | |
| NM_001354905.2:c.7682G>A | NP_001341834.1:p.Arg2561His | |
| NM_001354906.2:c.7313G>A | NP_001341835.1:p.Arg2438His |