Linked Data
dbSNP Id:
rs374620801
ExAC:
20:30407952 G / T
gnomAD v2:
20-30407952-G-T
gnomAD v3:
20-31820149-G-T
gnomAD v4:
20-31820149-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31820149G>T , CM000682.2:g.31820149G>T | GRCh38 |
| NC_000020.10:g.30407952G>T , CM000682.1:g.30407952G>T | GRCh37 |
| NC_000020.9:g.29871613G>T | NCBI36 |
| NG_012847.1:g.5775G>T , LRG_392:g.5775G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375985.5:c.76G>T MANE Select | ENSP00000365152.4:p.Gly26Cys | |
| ENST00000375985.4:c.76G>T | ENSP00000365152.4:p.Gly26Cys | |
| ENST00000375994.6:c.76G>T | ENSP00000365162.2:p.Gly26Cys | |
| NM_033118.3:c.76G>T , LRG_392t1:c.76G>T | NP_149109.1:p.Gly26Cys | |
| XR_244155.1:n.241G>T | ||
| NM_033118.4:c.76G>T MANE Select | NP_149109.1:p.Gly26Cys |