Linked Data
dbSNP Id:
rs745619040
ExAC:
20:60503282 G / T
gnomAD v2:
20-60503282-G-T
gnomAD v4:
20-61928224-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61928224G>T , CM000682.2:g.61928224G>T | GRCh38 |
| NC_000020.10:g.60503282G>T , CM000682.1:g.60503282G>T | GRCh37 |
| NC_000020.9:g.59936677G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614565.5:c.1806G>T MANE Select | ENSP00000484928.1:p.Gln602His | |
| ENST00000543233.2:c.1584G>T | ENSP00000443301.1:p.Gln528His | |
| ENST00000611855.4:c.1524G>T | ENSP00000480844.1:p.Gln508His | |
| ENST00000614565.4:c.1806G>T | ENSP00000484928.1:p.Gln602His | |
| NM_001252338.2:c.1695G>T | NP_001239267.1:p.Gln565His | |
| NM_001252339.2:c.1584G>T | NP_001239268.1:p.Gln528His | |
| NM_001794.4:c.1806G>T | NP_001785.2:p.Gln602His | |
| NM_001794.5:c.1806G>T MANE Select | NP_001785.2:p.Gln602His | |
| NM_001252339.3:c.1584G>T | NP_001239268.1:p.Gln528His |