Linked Data
dbSNP Id:
rs1201728692
gnomAD v2:
5-56171414-C-A
gnomAD v3:
5-56875587-C-A
gnomAD v4:
5-56875587-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56875587C>A , CM000667.2:g.56875587C>A | GRCh38 |
| NC_000005.9:g.56171414C>A , CM000667.1:g.56171414C>A | GRCh37 |
| NC_000005.8:g.56207171C>A | NCBI36 |
| NG_031884.1:g.65515C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.1965+277C>A MANE Select | ENSP00000382423.3:n.1965+277C>A | |
| ENST00000399503.3:c.1965+277C>A | ENSP00000382423.3:n.1965+277C>A | |
| NM_005921.1:c.1965+277C>A | NP_005912.1:n.1965+277C>A | |
| XM_005248519.3:c.1587+277C>A | XP_005248576.2:n.1587+277C>A | |
| XM_011543406.1:c.1710+277C>A | XP_011541708.1:n.1710+277C>A | |
| XM_011543407.1:c.1686+2582C>A | XP_011541709.1:n.1686+2582C>A | |
| XM_011543408.1:c.1965+277C>A | XP_011541710.1:n.1965+277C>A | |
| XM_017009484.1:c.1554+277C>A | XP_016864973.1:n.1554+277C>A | |
| XM_017009485.1:c.1476+277C>A | XP_016864974.1:n.1476+277C>A | |
| XR_001742068.2:n.1996+277C>A | ||
| NM_005921.2:c.1965+277C>A MANE Select | NP_005912.1:n.1965+277C>A |