Linked Data
dbSNP Id:
rs371571270
ExAC:
20:60503339 G / T
gnomAD v2:
20-60503339-G-T
gnomAD v3:
20-61928281-G-T
gnomAD v4:
20-61928281-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61928281G>T , CM000682.2:g.61928281G>T | GRCh38 |
| NC_000020.10:g.60503339G>T , CM000682.1:g.60503339G>T | GRCh37 |
| NC_000020.9:g.59936734G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614565.5:c.1863G>T MANE Select | ENSP00000484928.1:p.Gln621His | |
| ENST00000543233.2:c.1641G>T | ENSP00000443301.1:p.Gln547His | |
| ENST00000611855.4:c.1581G>T | ENSP00000480844.1:p.Gln527His | |
| ENST00000614565.4:c.1863G>T | ENSP00000484928.1:p.Gln621His | |
| NM_001252338.2:c.1752G>T | NP_001239267.1:p.Gln584His | |
| NM_001252339.2:c.1641G>T | NP_001239268.1:p.Gln547His | |
| NM_001794.4:c.1863G>T | NP_001785.2:p.Gln621His | |
| NM_001794.5:c.1863G>T MANE Select | NP_001785.2:p.Gln621His | |
| NM_001252339.3:c.1641G>T | NP_001239268.1:p.Gln547His |