Linked Data
ClinVar Variation Id:
380528
dbSNP Id:
rs35604168
ExAC:
1:63877000 G / T
gnomAD v2:
1-63877000-G-T
gnomAD v3:
1-63411329-G-T
gnomAD v4:
1-63411329-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63411329G>T , CM000663.2:g.63411329G>T | GRCh38 |
| NC_000001.10:g.63877000G>T , CM000663.1:g.63877000G>T | GRCh37 |
| NC_000001.9:g.63649588G>T | NCBI36 |
| NG_008925.2:g.48740G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263440.6:c.678G>T MANE Select | ENSP00000263440.5:p.Lys226Asn | |
| ENST00000603108.6:c.678G>T | ENSP00000473934.2:p.Lys226Asn | |
| ENST00000647818.1:c.569G>T | ENSP00000497667.1:p.Arg190Met | |
| ENST00000648964.1:c.*407G>T | ENSP00000497828.1:n.*407G>T | |
| ENST00000649570.1:c.678G>T | ENSP00000497742.1:p.Lys226Asn | |
| ENST00000650494.1:c.504+174G>T | ENSP00000497170.1:n.504+174G>T | |
| ENST00000263440.4:c.684G>T | ENSP00000263440.4:p.Lys228Asn | |
| ENST00000371108.8:c.678G>T | ENSP00000360149.4:p.Lys226Asn | |
| ENST00000603108.5:c.684G>T | ENSP00000473934.1:p.Lys228Asn | |
| NM_013339.3:c.678G>T | NP_037471.2:p.Lys226Asn | |
| NM_013339.4:c.678G>T MANE Select | NP_037471.2:p.Lys226Asn |