Linked Data
ClinVar Variation Id:
438801
ClinVar RCV Id:
RCV000505561
dbSNP Id:
rs1554879741
PubMed:
PMID:26822237
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71819093C>A , CM000672.2:g.71819093C>A | GRCh38 |
| NC_000010.10:g.73578850C>A , CM000672.1:g.73578850C>A | GRCh37 |
| NC_000010.9:g.73248856C>A | NCBI36 |
| NG_009301.1:g.37233G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.1369G>T MANE Select | ENSP00000378394.3:p.Glu457Ter | |
| ENST00000394934.4:c.1378G>T | ENSP00000378392.2:p.Glu460Ter | |
| ENST00000394936.7:c.1369G>T | ENSP00000378394.3:p.Glu457Ter | |
| ENST00000495196.1:n.179G>T | ||
| ENST00000610929.3:c.517G>T | ENSP00000480857.1:p.Glu173Ter | |
| NM_001042465.1:c.1378G>T | NP_001035930.1:p.Glu460Ter | |
| NM_001042466.1:c.1375G>T | NP_001035931.1:p.Glu459Ter | |
| NM_002778.2:c.1369G>T | NP_002769.1:p.Glu457Ter | |
| NM_001042465.2:c.1378G>T | NP_001035930.1:p.Glu460Ter | |
| NM_001042466.2:c.1375G>T | NP_001035931.1:p.Glu459Ter | |
| NM_002778.3:c.1369G>T | NP_002769.1:p.Glu457Ter | |
| NM_002778.4:c.1369G>T MANE Select | NP_002769.1:p.Glu457Ter | |
| NM_001042465.3:c.1378G>T | NP_001035930.1:p.Glu460Ter | |
| NM_001042466.3:c.1375G>T | NP_001035931.1:p.Glu459Ter |