Linked Data
dbSNP Id:
rs148809365
ExAC:
3:49950751 C / T
gnomAD v2:
3-49950751-C-T
gnomAD v3:
3-49913318-C-T
gnomAD v4:
3-49913318-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49913318C>T , CM000665.2:g.49913318C>T | GRCh38 |
| NC_000003.11:g.49950751C>T , CM000665.1:g.49950751C>T | GRCh37 |
| NC_000003.10:g.49925755C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296473.8:c.29G>A MANE Select | ENSP00000296473.4:p.Ser10Asn | |
| ENST00000417270.2:c.29G>A | ENSP00000399613.2:p.Ser10Asn | |
| ENST00000455683.7:c.29G>A | ENSP00000404793.3:p.Ser10Asn | |
| ENST00000642691.1:c.29G>A | ENSP00000494294.1:p.Ser10Asn | |
| ENST00000645862.1:c.29G>A | ENSP00000494452.1:p.Ser10Asn | |
| ENST00000296473.7:c.320G>A | ENSP00000296473.3:p.Ser107Asn | |
| ENST00000417270.1:c.53G>A | ENSP00000399613.1:p.Ser18Asn | |
| ENST00000455683.6:c.320G>A | ENSP00000404793.2:p.Ser107Asn | |
| ENST00000473451.1:n.321G>A | ||
| ENST00000483022.5:n.386G>A | ||
| ENST00000484985.5:n.207G>A | ||
| ENST00000486107.5:n.323G>A | ||
| ENST00000493206.1:n.218G>A | ||
| NM_001142501.1:c.320G>A | NP_001135973.1:p.Ser107Asn | |
| NM_032355.3:c.320G>A | NP_115731.2:p.Ser107Asn | |
| XM_006713345.2:c.29G>A | XP_006713408.1:p.Ser10Asn | |
| XM_011534159.1:c.29G>A | XP_011532461.1:p.Ser10Asn | |
| XM_011534160.1:c.29G>A | XP_011532462.1:p.Ser10Asn | |
| XM_011534161.1:c.320G>A | XP_011532463.1:p.Ser107Asn | |
| XR_427338.2:n.934+1940C>T | ||
| XR_940830.1:n.1063+1073C>T | ||
| XR_940831.1:n.1063+1073C>T | ||
| XM_006713345.4:c.29G>A | XP_006713408.1:p.Ser10Asn | |
| XR_427338.3:n.934+1940C>T | ||
| XR_940830.2:n.1063+1073C>T | ||
| NM_001142501.2:c.29G>A | NP_001135973.2:p.Ser10Asn | |
| NM_032355.4:c.29G>A MANE Select | NP_115731.3:p.Ser10Asn |