Linked Data
ClinVar Variation Id:
136116
ClinVar RCV Id:
RCV000123318
RCV000412312
RCV000410823
RCV000597670
RCV001108243
RCV001108241
RCV001108240
RCV001108242
RCV002258804
dbSNP Id:
rs551159582
ExAC:
10:43623551 C / T
gnomAD v2:
10-43623551-C-T
gnomAD v3:
10-43128103-C-T
gnomAD v4:
10-43128103-C-T
PubMed:
PMID:11436122
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43128103C>T , CM000672.2:g.43128103C>T | GRCh38 |
| NC_000010.10:g.43623551C>T , CM000672.1:g.43623551C>T | GRCh37 |
| NC_000010.9:g.42943557C>T | NCBI36 |
| NG_007489.1:g.56035C>T , LRG_518:g.56035C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.*1349C>T | ENSP00000480088.2:n.*1349C>T | |
| ENST00000683007.1:n.4142C>T | ||
| ENST00000355710.8:c.3188-9C>T MANE Select | ENSP00000347942.3:n.3188-9C>T | |
| ENST00000355710.7:c.3188-9C>T | ENSP00000347942.3:n.3188-9C>T | |
| ENST00000615310.4:c.*537-9C>T | ENSP00000480088.1:n.*537-9C>T | |
| NM_020975.4:c.3188-9C>T , LRG_518t1:c.3188-9C>T | NP_066124.1:n.3188-9C>T | |
| XM_011540027.1:c.3188-9C>T | XP_011538329.1:n.3188-9C>T | |
| NM_020975.5:c.3188-9C>T | NP_066124.1:n.3188-9C>T | |
| NM_020975.6:c.3188-9C>T MANE Select | NP_066124.1:n.3188-9C>T |