Linked Data
ClinVar Variation Id:
92356
ClinVar RCV Id:
RCV001266364
dbSNP Id:
rs398123125
gnomAD v2:
5-78181578-C-A
gnomAD v3:
5-78885755-C-A
gnomAD v4:
5-78885755-C-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78885755C>A , CM000667.2:g.78885755C>A | GRCh38 |
| NC_000005.9:g.78181578C>A , CM000667.1:g.78181578C>A | GRCh37 |
| NC_000005.8:g.78217334C>A | NCBI36 |
| NG_007089.1:g.105780G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264914.10:c.971G>T MANE Select | ENSP00000264914.4:p.Gly324Val | |
| ENST00000521800.2:n.153G>T | ||
| ENST00000565165.2:c.971G>T | ENSP00000456339.2:p.Gly324Val | |
| ENST00000264914.8:c.971G>T | ENSP00000264914.4:p.Gly324Val | |
| ENST00000396151.7:c.971G>T | ENSP00000379455.3:p.Gly324Val | |
| ENST00000521800.1:n.76G>T | ||
| ENST00000565165.1:c.971G>T | ENSP00000456339.1:p.Gly324Val | |
| NM_000046.3:c.971G>T | NP_000037.2:p.Gly324Val | |
| NM_198709.2:c.971G>T | NP_942002.1:p.Gly324Val | |
| XM_005248506.3:c.971G>T | XP_005248563.1:p.Gly324Val | |
| XM_011543390.1:c.971G>T | XP_011541692.1:p.Gly324Val | |
| XM_011543391.1:c.971G>T | XP_011541693.1:p.Gly324Val | |
| XM_011543392.1:c.971G>T | XP_011541694.1:p.Gly324Val | |
| XM_011543393.1:c.971G>T | XP_011541695.1:p.Gly324Val | |
| NM_000046.4:c.971G>T | NP_000037.2:p.Gly324Val | |
| XM_011543391.3:c.971G>T | XP_011541693.1:p.Gly324Val | |
| XM_011543392.3:c.971G>T | XP_011541694.1:p.Gly324Val | |
| XM_011543393.2:c.971G>T | XP_011541695.1:p.Gly324Val | |
| XM_017009471.2:c.971G>T | XP_016864960.1:p.Gly324Val | |
| XR_001742065.2:n.1042G>T | ||
| XR_001742066.2:n.1042G>T | ||
| NM_000046.5:c.971G>T MANE Select | NP_000037.2:p.Gly324Val | |
| NM_198709.3:c.971G>T | NP_942002.1:p.Gly324Val |