Linked Data
dbSNP Id:
rs1440478651
gnomAD v2:
5-56171041-C-T
gnomAD v3:
5-56875214-C-T
gnomAD v4:
5-56875214-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56875214C>T , CM000667.2:g.56875214C>T | GRCh38 |
| NC_000005.9:g.56171041C>T , CM000667.1:g.56171041C>T | GRCh37 |
| NC_000005.8:g.56206798C>T | NCBI36 |
| NG_031884.1:g.65142C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.1869C>T MANE Select | ENSP00000382423.3:p.Ser623= | |
| ENST00000399503.3:c.1869C>T | ENSP00000382423.3:p.Ser623= | |
| NM_005921.1:c.1869C>T | NP_005912.1:p.Ser623= | |
| XM_005248519.3:c.1491C>T | XP_005248576.2:p.Ser497= | |
| XM_011543406.1:c.1614C>T | XP_011541708.1:p.Ser538= | |
| XM_011543407.1:c.1686+2209C>T | XP_011541709.1:n.1686+2209C>T | |
| XM_011543408.1:c.1869C>T | XP_011541710.1:p.Ser623= | |
| XM_017009484.1:c.1458C>T | XP_016864973.1:p.Ser486= | |
| XM_017009485.1:c.1380C>T | XP_016864974.1:p.Ser460= | |
| XR_001742068.2:n.1900C>T | ||
| NM_005921.2:c.1869C>T MANE Select | NP_005912.1:p.Ser623= |