Linked Data
dbSNP Id:
rs774640681
ExAC:
8:19818452 T / C
gnomAD v2:
8-19818452-T-C
gnomAD v4:
8-19960941-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19960941T>C , CM000670.2:g.19960941T>C | GRCh38 |
| NC_000008.10:g.19818452T>C , CM000670.1:g.19818452T>C | GRCh37 |
| NC_000008.9:g.19862732T>C | NCBI36 |
| NG_008855.1:g.26871T>C | |
| NG_008855.2:g.64225T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1180T>C MANE Select | ENSP00000497642.1:p.Tyr394His | |
| ENST00000650478.1:c.120T>C | ENSP00000497560.1:n.120T>C | |
| ENST00000311322.8:c.1180T>C | ENSP00000309757.6:p.Tyr394His | |
| NM_000237.2:c.1180T>C | NP_000228.1:p.Tyr394His | |
| NM_000237.3:c.1180T>C MANE Select | NP_000228.1:p.Tyr394His |