Linked Data
ClinVar Variation Id:
403535
dbSNP Id:
rs2228261
ExAC:
15:39880358 C / T
gnomAD v2:
15-39880358-C-T
gnomAD v3:
15-39588157-C-T
gnomAD v4:
15-39588157-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39588157C>T , CM000677.2:g.39588157C>T | GRCh38 |
| NC_000015.9:g.39880358C>T , CM000677.1:g.39880358C>T | GRCh37 |
| NC_000015.8:g.37667650C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260356.6:c.1410C>T MANE Select | ENSP00000260356.5:p.Asn470= | |
| ENST00000260356.5:c.1410C>T | ENSP00000260356.5:p.Asn470= | |
| ENST00000466755.1:n.185C>T | ||
| ENST00000497720.1:n.206C>T | ||
| NM_003246.2:c.1410C>T | NP_003237.2:p.Asn470= | |
| NM_003246.3:c.1410C>T | NP_003237.2:p.Asn470= | |
| XM_011521970.1:c.1410C>T | XP_011520272.1:p.Asn470= | |
| XM_011521971.1:c.1410C>T | XP_011520273.1:p.Asn470= | |
| XR_931897.1:n.1585C>T | ||
| XM_011521971.2:c.1410C>T | XP_011520273.1:p.Asn470= | |
| NM_003246.4:c.1410C>T MANE Select | NP_003237.2:p.Asn470= |