Linked Data
dbSNP Id:
rs1215292208
gnomAD v2:
5-90059190-C-A
gnomAD v3:
5-90763373-C-A
gnomAD v4:
5-90763373-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90763373C>A , CM000667.2:g.90763373C>A | GRCh38 |
| NC_000005.9:g.90059190C>A , CM000667.1:g.90059190C>A | GRCh37 |
| NC_000005.8:g.90094946C>A | NCBI36 |
| NG_007083.1:g.209574C>A | |
| NG_007083.2:g.239030C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12189C>A MANE Select | ENSP00000384582.2:p.Ser4063= | |
| ENST00000425867.3:c.1143C>A | ENSP00000392618.3:p.Ser381= | |
| ENST00000639431.1:c.265+87164C>A | ENSP00000491057.1:n.265+87164C>A | |
| ENST00000640464.1:n.2608C>A | ||
| ENST00000640729.1:n.766C>A | ||
| ENST00000405460.6:c.12189C>A | ENSP00000384582.2:p.Ser4063= | |
| NM_032119.3:c.12189C>A | NP_115495.3:p.Ser4063= | |
| NR_003149.1:n.12202C>A | ||
| XM_011543675.1:c.12186C>A | XP_011541977.1:p.Ser4062= | |
| XM_011543676.1:c.12108C>A | XP_011541978.1:p.Ser4036= | |
| XM_011543677.1:c.9492C>A | XP_011541979.1:p.Ser3164= | |
| XM_011543678.1:c.12189C>A | XP_011541980.1:p.Ser4063= | |
| NM_032119.4:c.12189C>A MANE Select | NP_115495.3:p.Ser4063= | |
| XM_017009963.2:c.12210C>A | XP_016865452.1:p.Ser4070= | |
| XM_017009964.2:c.12207C>A | XP_016865453.1:p.Ser4069= | |
| XM_017009965.1:c.12207C>A | XP_016865454.1:p.Ser4069= | |
| XM_017009966.2:c.12129C>A | XP_016865455.1:p.Ser4043= | |
| XM_017009967.1:c.12114C>A | XP_016865456.1:p.Ser4038= | |
| XM_017009968.2:c.12210C>A | XP_016865457.1:p.Ser4070= | |
| XM_017009969.2:c.12210C>A | XP_016865458.1:p.Ser4070= | |
| XM_017009970.2:c.12210C>A | XP_016865459.1:p.Ser4070= | |
| XM_017009971.2:c.12210C>A | XP_016865460.1:p.Ser4070= | |
| XM_017009972.1:c.5328C>A | XP_016865461.1:p.Ser1776= | |
| XM_017009973.1:c.5307C>A | XP_016865462.1:p.Ser1769= | |
| NR_003149.2:n.12205C>A |