Linked Data
ClinVar Variation Id:
243071
ClinVar RCV Id:
RCV000235060
dbSNP Id:
rs121908834
PubMed:
PMID:26257172
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32797768C>G , CM000663.2:g.32797768C>G | GRCh38 |
| NC_000001.10:g.33263369C>G , CM000663.1:g.33263369C>G | GRCh37 |
| NC_000001.9:g.33035956C>G | NCBI36 |
| NG_008408.1:g.25265G>C , LRG_273:g.25265G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675785.2:c.439G>C | ENSP00000502019.1:p.Glu147Gln | |
| ENST00000373477.9:c.586G>C MANE Select | ENSP00000362576.4:p.Glu196Gln | |
| ENST00000481895.6:c.586G>C | ENSP00000502016.1:p.Glu196Gln | |
| ENST00000616261.2:c.586G>C | ENSP00000484192.2:p.Glu196Gln | |
| ENST00000674629.1:c.*134G>C | ENSP00000502470.1:n.*134G>C | |
| ENST00000674654.1:c.*54G>C | ENSP00000501729.1:n.*54G>C | |
| ENST00000675785.1:c.439G>C | ENSP00000502019.1:p.Glu147Gln | |
| ENST00000676297.1:c.*268G>C | ENSP00000501596.1:n.*268G>C | |
| ENST00000373477.8:c.586G>C | ENSP00000362576.4:p.Glu196Gln | |
| ENST00000466052.1:n.447G>C | ||
| ENST00000470377.1:n.175G>C | ||
| ENST00000481895.5:n.659G>C | ||
| ENST00000616261.1:c.586G>C | ENSP00000484192.1:p.Glu196Gln | |
| NM_003680.3:c.586G>C , LRG_273t1:c.586G>C | NP_003671.1:p.Glu196Gln | |
| XM_011542347.1:c.-45G>C | XP_011540649.1:n.-45G>C | |
| XM_011542348.1:c.-92G>C | XP_011540650.1:n.-92G>C | |
| XM_011542347.2:c.-45G>C | XP_011540649.1:n.-45G>C | |
| XM_017002651.2:c.-92G>C | XP_016858140.1:n.-92G>C | |
| NM_003680.4:c.586G>C MANE Select | NP_003671.1:p.Glu196Gln |