Linked Data
dbSNP Id:
rs774752187
ExAC:
11:64521021 C / T
gnomAD v2:
11-64521021-C-T
gnomAD v3:
11-64753549-C-T
gnomAD v4:
11-64753549-C-T
COSMIC:
COSM5475553
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64753549C>T , CM000673.2:g.64753549C>T | GRCh38 |
| NC_000011.9:g.64521021C>T , CM000673.1:g.64521021C>T | GRCh37 |
| NC_000011.8:g.64277597C>T | NCBI36 |
| NG_013018.1:g.12167G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1373G>A MANE Select | ENSP00000164139.3:p.Arg458His | |
| ENST00000164139.3:c.1373G>A | ENSP00000164139.3:p.Arg458His | |
| ENST00000377432.7:c.1109G>A | ENSP00000366650.3:p.Arg370His | |
| NM_001164716.1:c.1109G>A | NP_001158188.1:p.Arg370His | |
| NM_005609.2:c.1373G>A | NP_005600.1:p.Arg458His | |
| NM_005609.3:c.1373G>A | NP_005600.1:p.Arg458His | |
| NM_005609.4:c.1373G>A MANE Select | NP_005600.1:p.Arg458His |