Linked Data
ClinVar Variation Id:
7472
ClinVar RCV Id:
RCV000007898
dbSNP Id:
rs121909114
gnomAD v2:
1-150484260-C-T
gnomAD v4:
1-150511784-C-T
PubMed:
PMID:11929856
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150511784C>T , CM000663.2:g.150511784C>T | GRCh38 |
| NC_000001.10:g.150484260C>T , CM000663.1:g.150484260C>T | GRCh37 |
| NC_000001.9:g.148750884C>T | NCBI36 |
| NG_012062.1:g.8774C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369047.9:c.1036C>T MANE Select | ENSP00000358043.4:p.Gln346Ter | |
| ENST00000346569.6:c.709-568C>T | ENSP00000271630.6:n.709-568C>T | |
| ENST00000369047.8:c.1036C>T | ENSP00000358043.4:p.Gln346Ter | |
| ENST00000369049.8:c.1117C>T | ENSP00000358045.4:p.Gln373Ter | |
| ENST00000470432.5:n.2393C>T | ||
| NM_001202858.1:c.1117C>T | NP_001189787.1:p.Gln373Ter | |
| NM_004425.3:c.1036C>T | NP_004416.2:p.Gln346Ter | |
| NM_022664.2:c.709-568C>T | NP_073155.2:n.709-568C>T | |
| NM_004425.4:c.1036C>T MANE Select | NP_004416.2:p.Gln346Ter | |
| NM_001202858.2:c.1117C>T | NP_001189787.1:p.Gln373Ter | |
| NM_022664.3:c.709-568C>T | NP_073155.2:n.709-568C>T |