Linked Data
dbSNP Id:
rs147214733
ExAC:
20:60503409 G / A
gnomAD v2:
20-60503409-G-A
gnomAD v3:
20-61928351-G-A
gnomAD v4:
20-61928351-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61928351G>A , CM000682.2:g.61928351G>A | GRCh38 |
| NC_000020.10:g.60503409G>A , CM000682.1:g.60503409G>A | GRCh37 |
| NC_000020.9:g.59936804G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614565.5:c.1933G>A MANE Select | ENSP00000484928.1:p.Gly645Ser | |
| ENST00000543233.2:c.1711G>A | ENSP00000443301.1:p.Gly571Ser | |
| ENST00000611855.4:c.1651G>A | ENSP00000480844.1:p.Gly551Ser | |
| ENST00000614565.4:c.1933G>A | ENSP00000484928.1:p.Gly645Ser | |
| NM_001252338.2:c.1822G>A | NP_001239267.1:p.Gly608Ser | |
| NM_001252339.2:c.1711G>A | NP_001239268.1:p.Gly571Ser | |
| NM_001794.4:c.1933G>A | NP_001785.2:p.Gly645Ser | |
| NM_001794.5:c.1933G>A MANE Select | NP_001785.2:p.Gly645Ser | |
| NM_001252339.3:c.1711G>A | NP_001239268.1:p.Gly571Ser |