Linked Data
ClinVar Variation Id:
30260
ClinVar RCV Id:
RCV000023187
dbSNP Id:
rs387906835
PubMed:
PMID:15024725
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35503757C>A , CM000668.2:g.35503757C>A | GRCh38 |
| NC_000006.11:g.35471534C>A , CM000668.1:g.35471534C>A | GRCh37 |
| NC_000006.10:g.35579512C>A | NCBI36 |
| NG_009077.1:g.14114G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.1204G>T MANE Select | ENSP00000229771.6:p.Glu402Ter | |
| ENST00000229771.10:c.1204G>T | ENSP00000229771.6:p.Glu402Ter | |
| ENST00000322263.8:c.1045G>T | ENSP00000319414.4:p.Glu349Ter | |
| ENST00000373892.4:n.806G>T | ||
| ENST00000495781.1:n.380G>T | ||
| ENST00000496434.5:n.221G>T | ||
| ENST00000614066.4:c.1198G>T | ENSP00000477534.1:p.Glu400Ter | |
| NM_001289395.1:c.1045G>T | NP_001276324.1:p.Glu349Ter | |
| NM_003322.4:c.1204G>T | NP_003313.3:p.Glu402Ter | |
| NM_003322.5:c.1204G>T | NP_003313.3:p.Glu402Ter | |
| NM_003322.6:c.1204G>T MANE Select | NP_003313.3:p.Glu402Ter | |
| NM_001289395.2:c.1045G>T | NP_001276324.1:p.Glu349Ter |