Linked Data
ClinVar Variation Id:
133010
ClinVar RCV Id:
RCV000119430
RCV000280393
RCV000295802
RCV000243592
RCV000398335
RCV000334467
RCV002055317
dbSNP Id:
rs3745845
ExAC:
19:38942393 C / T
gnomAD v2:
19-38942393-C-T
gnomAD v3:
19-38451753-C-T
gnomAD v4:
19-38451753-C-T
PubMed:
PMID:16917943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38451753C>T , CM000681.2:g.38451753C>T | GRCh38 |
| NC_000019.9:g.38942393C>T , CM000681.1:g.38942393C>T | GRCh37 |
| NC_000019.8:g.43634233C>T | NCBI36 |
| NG_008866.1:g.23054C>T , LRG_766:g.23054C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.1123-11C>T | ENSP00000471601.2:n.1123-11C>T | |
| ENST00000359596.8:c.1123-11C>T MANE Select | ENSP00000352608.2:n.1123-11C>T | |
| ENST00000355481.8:c.1123-11C>T | ENSP00000347667.3:n.1123-11C>T | |
| ENST00000359596.7:c.1123-11C>T | ENSP00000352608.2:n.1123-11C>T | |
| ENST00000360985.7:c.1123-11C>T | ENSP00000354254.4:n.1123-11C>T | |
| NM_000540.2:c.1123-11C>T , LRG_766t1:c.1123-11C>T | NP_000531.2:n.1123-11C>T | |
| NM_001042723.1:c.1123-11C>T | NP_001036188.1:n.1123-11C>T | |
| XM_006723317.1:c.1123-11C>T | XP_006723380.1:n.1123-11C>T | |
| XM_006723319.1:c.1123-11C>T | XP_006723382.1:n.1123-11C>T | |
| XM_011527204.1:c.1120-11C>T | XP_011525506.1:n.1120-11C>T | |
| XM_011527205.1:c.1123-11C>T | XP_011525507.1:n.1123-11C>T | |
| XM_006723317.2:c.1123-11C>T | XP_006723380.1:n.1123-11C>T | |
| XM_006723319.2:c.1123-11C>T | XP_006723382.1:n.1123-11C>T | |
| XM_011527205.2:c.1123-11C>T | XP_011525507.1:n.1123-11C>T | |
| XR_001753735.1:n.1206-11C>T | ||
| NM_000540.3:c.1123-11C>T MANE Select | NP_000531.2:n.1123-11C>T | |
| NM_001042723.2:c.1123-11C>T | NP_001036188.1:n.1123-11C>T |