Linked Data
dbSNP Id:
rs11905552
ExAC:
20:3838400 G / T
gnomAD v2:
20-3838400-G-T
gnomAD v3:
20-3857753-G-T
gnomAD v4:
20-3857753-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3857753G>T , CM000682.2:g.3857753G>T | GRCh38 |
| NC_000020.10:g.3838400G>T , CM000682.1:g.3838400G>T | GRCh37 |
| NC_000020.9:g.3786400G>T | NCBI36 |
| NG_030028.1:g.15955G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428216.4:c.236G>T MANE Select | ENSP00000401980.2:p.Cys79Phe | |
| ENST00000416600.6:c.-132+3012G>T | ENSP00000413749.2:n.-132+3012G>T | |
| ENST00000428216.3:c.236G>T | ENSP00000401980.2:p.Cys79Phe | |
| NM_001206491.1:c.-132+3012G>T | NP_001193420.1:n.-132+3012G>T | |
| NM_020746.4:c.236G>T | NP_065797.2:p.Cys79Phe | |
| NR_037921.1:n.408G>T | ||
| NM_020746.5:c.236G>T MANE Select | NP_065797.2:p.Cys79Phe | |
| NR_037921.2:n.373G>T | ||
| NM_001206491.2:c.-132+3012G>T | NP_001193420.1:n.-132+3012G>T | |
| NM_001385663.1:c.-312G>T | NP_001372592.1:n.-312G>T |