Linked Data
ClinVar Variation Id:
11027
ClinVar RCV Id:
RCV000011774
dbSNP Id:
rs104894881
gnomAD v2:
X-17393995-C-T
gnomAD v4:
X-17375872-C-T
PubMed:
PMID:15623749
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.17375872C>T , CM000685.2:g.17375872C>T | GRCh38 |
| NC_000023.10:g.17393995C>T , CM000685.1:g.17393995C>T | GRCh37 |
| NC_000023.9:g.17303916C>T | NCBI36 |
| NG_011553.2:g.5453C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000676302.1:c.115C>T MANE Select | ENSP00000502262.1:p.Gln39Ter | |
| ENST00000380060.7:c.115C>T | ENSP00000369400.3:p.Gln39Ter | |
| NM_001291867.1:c.115C>T | NP_001278796.1:p.Gln39Ter | |
| NM_198270.3:c.115C>T | NP_938011.1:p.Gln39Ter | |
| NM_001291867.2:c.115C>T MANE Select | NP_001278796.1:p.Gln39Ter | |
| NM_198270.4:c.115C>T | NP_938011.1:p.Gln39Ter |