Linked Data
dbSNP Id:
rs186950801
gnomAD v2:
20-3838227-G-T
gnomAD v3:
20-3857580-G-T
gnomAD v4:
20-3857580-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3857580G>T , CM000682.2:g.3857580G>T | GRCh38 |
| NC_000020.10:g.3838227G>T , CM000682.1:g.3838227G>T | GRCh37 |
| NC_000020.9:g.3786227G>T | NCBI36 |
| NG_030028.1:g.15782G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428216.4:c.118-55G>T MANE Select | ENSP00000401980.2:n.118-55G>T | |
| ENST00000416600.6:c.-132+2839G>T | ENSP00000413749.2:n.-132+2839G>T | |
| ENST00000428216.3:c.118-55G>T | ENSP00000401980.2:n.118-55G>T | |
| NM_001206491.1:c.-132+2839G>T | NP_001193420.1:n.-132+2839G>T | |
| NM_020746.4:c.118-55G>T | NP_065797.2:n.118-55G>T | |
| NR_037921.1:n.290-55G>T | ||
| NM_020746.5:c.118-55G>T MANE Select | NP_065797.2:n.118-55G>T | |
| NR_037921.2:n.255-55G>T | ||
| NM_001206491.2:c.-132+2839G>T | NP_001193420.1:n.-132+2839G>T | |
| NM_001385663.1:c.-430-55G>T | NP_001372592.1:n.-430-55G>T |