Linked Data
dbSNP Id:
rs779781322
ExAC:
19:41354282 C / A
gnomAD v2:
19-41354282-C-A
gnomAD v3:
19-40848377-C-A
gnomAD v4:
19-40848377-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40848377C>A , CM000681.2:g.40848377C>A | GRCh38 |
| NC_000019.9:g.41354282C>A , CM000681.1:g.41354282C>A | GRCh37 |
| NC_000019.8:g.46046122C>A | NCBI36 |
| NG_008377.1:g.7071G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301141.10:c.496G>T MANE Select | ENSP00000301141.4:p.Ala166Ser | |
| ENST00000301141.9:c.496G>T | ENSP00000301141.4:p.Ala166Ser | |
| ENST00000596719.5:n.347G>T | ||
| ENST00000600495.1:c.*308G>T | ENSP00000472905.1:n.*308G>T | |
| ENST00000601627.1:c.120-43614C>A | ||
| ENST00000610301.1:c.496G>T | ENSP00000477899.1:p.Ala166Ser | |
| NM_000762.5:c.496G>T | NP_000753.3:p.Ala166Ser | |
| NM_000762.6:c.496G>T MANE Select | NP_000753.3:p.Ala166Ser |