Linked Data
dbSNP Id:
rs1304942726
gnomAD v3:
3-50243802-C-A
gnomAD v4:
3-50243802-C-A
MyVariant Identifiers:
chr3:g.50243802C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50243802C>A , CM000665.2:g.50243802C>A | GRCh38 |
| NC_000003.11:g.50281234C>A , CM000665.1:g.50281234C>A | GRCh37 |
| NC_000003.10:g.50256238C>A | NCBI36 |
| NG_016002.2:g.22115C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313601.11:c.118+7349C>A MANE Select | ENSP00000312999.6:n.118+7349C>A | |
| ENST00000266027.9:c.-38-8298C>A | ENSP00000266027.6:n.-38-8298C>A | |
| ENST00000313601.10:c.118+7349C>A | ENSP00000312999.6:n.118+7349C>A | |
| ENST00000422163.5:c.71-8298C>A | ENSP00000406871.1:n.71-8298C>A | |
| ENST00000440628.5:c.-39+5386C>A | ENSP00000395736.1:n.-39+5386C>A | |
| ENST00000441156.5:c.118+7349C>A | ENSP00000394321.1:n.118+7349C>A | |
| ENST00000446079.5:c.71-7818C>A | ENSP00000406065.1:n.71-7818C>A | |
| ENST00000491100.5:n.1935-8298C>A | ||
| NM_001282617.1:c.-38-8298C>A | NP_001269546.1:n.-38-8298C>A | |
| NM_001282618.1:c.-83+7349C>A | NP_001269547.1:n.-83+7349C>A | |
| NM_001282619.1:c.-54-7818C>A | NP_001269548.1:n.-54-7818C>A | |
| NM_001282620.1:c.71-8298C>A | NP_001269549.1:n.71-8298C>A | |
| NM_002070.3:c.118+7349C>A | NP_002061.1:n.118+7349C>A | |
| NM_002070.4:c.118+7349C>A MANE Select | NP_002061.1:n.118+7349C>A | |
| NM_001282618.2:c.-83+7349C>A | NP_001269547.1:n.-83+7349C>A | |
| NM_001282619.2:c.-54-7818C>A | NP_001269548.1:n.-54-7818C>A | |
| NM_001282620.2:c.71-8298C>A | NP_001269549.1:n.71-8298C>A | |
| NM_001282617.2:c.-38-8298C>A | NP_001269546.1:n.-38-8298C>A |