Linked Data
ClinVar Variation Id:
2250638
ClinVar RCV Id:
RCV004107339
dbSNP Id:
rs757816931
ExAC:
20:3838418 C / T
gnomAD v2:
20-3838418-C-T
gnomAD v3:
20-3857771-C-T
gnomAD v4:
20-3857771-C-T
COSMIC:
COSM4098351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3857771C>T , CM000682.2:g.3857771C>T | GRCh38 |
| NC_000020.10:g.3838418C>T , CM000682.1:g.3838418C>T | GRCh37 |
| NC_000020.9:g.3786418C>T | NCBI36 |
| NG_030028.1:g.15973C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428216.4:c.254C>T MANE Select | ENSP00000401980.2:p.Ala85Val | |
| ENST00000416600.6:c.-132+3030C>T | ENSP00000413749.2:n.-132+3030C>T | |
| ENST00000428216.3:c.254C>T | ENSP00000401980.2:p.Ala85Val | |
| NM_001206491.1:c.-132+3030C>T | NP_001193420.1:n.-132+3030C>T | |
| NM_020746.4:c.254C>T | NP_065797.2:p.Ala85Val | |
| NR_037921.1:n.426C>T | ||
| NM_020746.5:c.254C>T MANE Select | NP_065797.2:p.Ala85Val | |
| NR_037921.2:n.391C>T | ||
| NM_001206491.2:c.-132+3030C>T | NP_001193420.1:n.-132+3030C>T | |
| NM_001385663.1:c.-294C>T | NP_001372592.1:n.-294C>T |