Linked Data
dbSNP Id:
rs775410649
gnomAD v2:
20-3838294-G-C
gnomAD v4:
20-3857647-G-C
COSMIC:
COSM1026762
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3857647G>C , CM000682.2:g.3857647G>C | GRCh38 |
| NC_000020.10:g.3838294G>C , CM000682.1:g.3838294G>C | GRCh37 |
| NC_000020.9:g.3786294G>C | NCBI36 |
| NG_030028.1:g.15849G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428216.4:c.130G>C MANE Select | ENSP00000401980.2:p.Ala44Pro | |
| ENST00000416600.6:c.-132+2906G>C | ENSP00000413749.2:n.-132+2906G>C | |
| ENST00000428216.3:c.130G>C | ENSP00000401980.2:p.Ala44Pro | |
| NM_001206491.1:c.-132+2906G>C | NP_001193420.1:n.-132+2906G>C | |
| NM_020746.4:c.130G>C | NP_065797.2:p.Ala44Pro | |
| NR_037921.1:n.302G>C | ||
| NM_020746.5:c.130G>C MANE Select | NP_065797.2:p.Ala44Pro | |
| NR_037921.2:n.267G>C | ||
| NM_001206491.2:c.-132+2906G>C | NP_001193420.1:n.-132+2906G>C | |
| NM_001385663.1:c.-418G>C | NP_001372592.1:n.-418G>C |