Linked Data
ClinVar Variation Id:
754917
ClinVar RCV Id:
RCV000932277
dbSNP Id:
rs942934336
gnomAD v3:
1-26950740-G-A
gnomAD v4:
1-26950740-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26950740G>A , CM000663.2:g.26950740G>A | GRCh38 |
| NC_000001.10:g.27277231G>A , CM000663.1:g.27277231G>A | GRCh37 |
| NC_000001.9:g.27149818G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320567.6:c.1056C>T MANE Select | ENSP00000319179.5:p.Ile352= | |
| ENST00000320567.5:c.1056C>T | ENSP00000319179.5:p.Ile352= | |
| ENST00000616918.1:c.*314C>T | ENSP00000481107.1:n.*314C>T | |
| NM_152365.2:c.1056C>T | NP_689578.2:p.Ile352= | |
| XM_005245735.2:c.1056C>T | XP_005245792.1:p.Ile352= | |
| XM_011540622.1:c.1056C>T | XP_011538924.1:p.Ile352= | |
| XM_011540622.2:c.1056C>T | XP_011538924.1:p.Ile352= | |
| NM_152365.3:c.1056C>T MANE Select | NP_689578.2:p.Ile352= |