Linked Data
ClinVar Variation Id:
13504
ClinVar RCV Id:
RCV000014453
dbSNP Id:
rs121918047
gnomAD v4:
15-89321242-C-A
PubMed:
PMID:15122711
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89321242C>A , CM000677.2:g.89321242C>A | GRCh38 |
| NC_000015.9:g.89864473C>A , CM000677.1:g.89864473C>A | GRCh37 |
| NC_000015.8:g.87665477C>A | NCBI36 |
| NG_008218.1:g.18554G>T | |
| NG_008218.2:g.18554G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636937.2:c.2617G>T | ENSP00000516154.1:p.Glu873Ter | |
| ENST00000268124.11:c.2617G>T MANE Select | ENSP00000268124.5:p.Glu873Ter | |
| ENST00000530292.3:c.2218G>T | ENSP00000432885.2:p.Glu740Ter | |
| ENST00000635986.2:c.2617G>T | ENSP00000490653.2:p.Glu873Ter | |
| ENST00000636774.1:c.*1184G>T | ENSP00000489799.1:n.*1184G>T | |
| ENST00000637238.1:c.1314G>T | ENSP00000490756.1:n.1314G>T | |
| ENST00000637264.1:c.1689G>T | ||
| ENST00000666746.1:c.2194G>T | ||
| ENST00000670281.1:c.800+720G>T | ENSP00000499709.1:n.800+720G>T | |
| ENST00000672071.1:n.2815G>T | ||
| ENST00000672923.2:n.2559G>T | ||
| ENST00000268124.9:c.2617G>T | ENSP00000268124.5:p.Glu873Ter | |
| ENST00000442287.6:c.2617G>T | ENSP00000399851.2:p.Glu873Ter | |
| ENST00000528881.2:c.214G>T | ||
| ENST00000530715.5:c.186-373G>T | ENSP00000431395.1:n.186-373G>T | |
| ENST00000631044.2:c.*2041G>T | ENSP00000486730.1:n.*2041G>T | |
| NM_001126131.1:c.2617G>T | NP_001119603.1:p.Glu873Ter | |
| NM_002693.2:c.2617G>T | NP_002684.1:p.Glu873Ter | |
| NM_001126131.2:c.2617G>T | NP_001119603.1:p.Glu873Ter | |
| NM_002693.3:c.2617G>T MANE Select | NP_002684.1:p.Glu873Ter |