Linked Data
ClinVar Variation Id:
3173933
ClinVar RCV Id:
RCV004469230
dbSNP Id:
rs538956093
ExAC:
15:102197232 C / T
gnomAD v2:
15-102197232-C-T
gnomAD v4:
15-101657029-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101657029C>T , CM000677.2:g.101657029C>T | GRCh38 |
| NC_000015.9:g.102197232C>T , CM000677.1:g.102197232C>T | GRCh37 |
| NC_000015.8:g.100014755C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335968.8:c.2153G>A MANE Select | ENSP00000338093.3:p.Ser718Asn | |
| ENST00000335968.7:c.2153G>A | ENSP00000338093.3:p.Ser718Asn | |
| ENST00000539112.5:c.2153G>A | ENSP00000439899.1:p.Ser718Asn | |
| ENST00000558533.5:c.1291G>A | ENSP00000452740.1:n.1291G>A | |
| ENST00000559492.1:n.386G>A | ||
| ENST00000615656.1:c.2153G>A | ENSP00000478827.1:p.Ser718Asn | |
| NM_152334.2:c.2153G>A | NP_689547.2:p.Ser718Asn | |
| XM_006720386.2:c.2080G>A | XP_006720449.1:p.Val694Met | |
| XR_931748.1:n.2228G>A | ||
| XM_006720386.4:c.2080G>A | XP_006720449.1:p.Val694Met | |
| XM_024449836.1:c.1424G>A | XP_024305604.1:p.Ser475Asn | |
| XR_001751082.2:n.2198G>A | ||
| XR_001751083.2:n.2125G>A | ||
| XR_001751084.2:n.2303G>A | ||
| XR_931748.3:n.2230G>A | ||
| NM_152334.3:c.2153G>A MANE Select | NP_689547.2:p.Ser718Asn |