Linked Data
ClinVar Variation Id:
393465
ClinVar RCV Id:
RCV000445561
dbSNP Id:
rs1057524915
PubMed:
PMID:25356899
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244863797G>A , CM000663.2:g.244863797G>A | GRCh38 |
| NC_000001.10:g.245027099G>A , CM000663.1:g.245027099G>A | GRCh37 |
| NC_000001.9:g.243093722G>A | NCBI36 |
| NG_042184.1:g.5729C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704074.1:c.189C>T | ||
| ENST00000283179.14:c.511C>T | ENSP00000283179.10:p.Gln171Ter | |
| ENST00000444376.7:c.511C>T | ENSP00000393151.2:p.Gln171Ter | |
| ENST00000476241.2:n.696C>T | ||
| ENST00000638475.1:c.295C>T | ENSP00000491305.1:p.Gln99Ter | |
| ENST00000638952.1:n.742C>T | ||
| ENST00000640218.2:c.511C>T MANE Select | ENSP00000491215.1:p.Gln171Ter | |
| ENST00000640306.1:c.511C>T | ENSP00000491685.1:p.Gln171Ter | |
| ENST00000640440.1:c.211C>T | ENSP00000491263.1:p.Gln71Ter | |
| ENST00000649899.1:n.735C>T | ||
| ENST00000283179.13:c.511C>T | ENSP00000283179.9:p.Gln171Ter | |
| ENST00000444376.6:c.511C>T | ENSP00000393151.2:p.Gln171Ter | |
| ENST00000476241.1:n.695C>T | ||
| NM_004501.3:c.511C>T | NP_004492.2:p.Gln171Ter | |
| NM_031844.2:c.511C>T | NP_114032.2:p.Gln171Ter | |
| NM_031844.3:c.511C>T MANE Select | NP_114032.2:p.Gln171Ter |