Linked Data
dbSNP Id:
rs964011790
gnomAD v2:
7-21675678-G-T
gnomAD v3:
7-21636060-G-T
gnomAD v4:
7-21636060-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21636060G>T , CM000669.2:g.21636060G>T | GRCh38 |
| NC_000007.13:g.21675678G>T , CM000669.1:g.21675678G>T | GRCh37 |
| NC_000007.12:g.21642203G>T | NCBI36 |
| NG_012886.2:g.97846G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.4690G>T MANE Select | ENSP00000475939.1:p.Ala1564Ser | |
| ENST00000328843.10:c.4705G>T | ENSP00000330671.7:p.Ala1569Ser | |
| ENST00000409508.7:c.4690G>T | ENSP00000475939.1:p.Ala1564Ser | |
| ENST00000465593.1:n.716G>T | ||
| ENST00000620169.4:c.4705G>T | ENSP00000481693.1:p.Ala1569Ser | |
| NM_001277115.1:c.4690G>T | NP_001264044.1:p.Ala1564Ser | |
| NM_001277115.2:c.4690G>T MANE Select | NP_001264044.1:p.Ala1564Ser |