Linked Data
ClinVar Variation Id:
1144859
ClinVar RCV Id:
RCV001483511
dbSNP Id:
rs144998270
ExAC:
8:38003651 G / A
gnomAD v2:
8-38003651-G-A
gnomAD v3:
8-38146133-G-A
gnomAD v4:
8-38146133-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146133G>A , CM000670.2:g.38146133G>A | GRCh38 |
| NC_000008.10:g.38003651G>A , CM000670.1:g.38003651G>A | GRCh37 |
| NC_000008.9:g.38122808G>A | NCBI36 |
| NG_011827.1:g.9950C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.480C>T MANE Select | ENSP00000276449.3:p.Ile160= | |
| ENST00000276449.8:c.480C>T | ENSP00000276449.3:p.Ile160= | |
| ENST00000520114.1:n.967C>T | ||
| ENST00000522050.1:c.416C>T | ||
| NM_000349.2:c.480C>T | NP_000340.2:p.Ile160= | |
| XM_006716392.1:c.480C>T | XP_006716455.1:p.Ile160= | |
| NM_000349.3:c.480C>T MANE Select | NP_000340.2:p.Ile160= |