Linked Data
ClinVar Variation Id:
167624
ClinVar RCV Id:
RCV000321998
RCV000513533
RCV000153872
RCV001081922
RCV000271306
RCV000325376
RCV000384640
dbSNP Id:
rs143861818
ExAC:
19:39051746 C / T
gnomAD v2:
19-39051746-C-T
gnomAD v3:
19-38561106-C-T
gnomAD v4:
19-38561106-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38561106C>T , CM000681.2:g.38561106C>T | GRCh38 |
| NC_000019.9:g.39051746C>T , CM000681.1:g.39051746C>T | GRCh37 |
| NC_000019.8:g.43743586C>T | NCBI36 |
| NG_008866.1:g.132407C>T , LRG_766:g.132407C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.693-7C>T | ||
| ENST00000689936.1:c.675-7C>T | ||
| ENST00000359596.8:c.12283-7C>T MANE Select | ENSP00000352608.2:n.12283-7C>T | |
| ENST00000355481.8:c.12268-7C>T | ENSP00000347667.3:n.12268-7C>T | |
| ENST00000359596.7:c.12283-7C>T | ENSP00000352608.2:n.12283-7C>T | |
| ENST00000360985.7:c.12265-7C>T | ENSP00000354254.4:n.12265-7C>T | |
| ENST00000594335.5:c.5652-7C>T | ||
| NM_000540.2:c.12283-7C>T , LRG_766t1:c.12283-7C>T | NP_000531.2:n.12283-7C>T | |
| NM_001042723.1:c.12268-7C>T | NP_001036188.1:n.12268-7C>T | |
| XM_006723317.1:c.12265-7C>T | XP_006723380.1:n.12265-7C>T | |
| XM_006723319.1:c.12250-7C>T | XP_006723382.1:n.12250-7C>T | |
| XM_011527204.1:c.12280-7C>T | XP_011525506.1:n.12280-7C>T | |
| XM_011527205.1:c.12283-7C>T | XP_011525507.1:n.12283-7C>T | |
| XM_006723317.2:c.12265-7C>T | XP_006723380.1:n.12265-7C>T | |
| XM_006723319.2:c.12250-7C>T | XP_006723382.1:n.12250-7C>T | |
| XM_011527205.2:c.12283-7C>T | XP_011525507.1:n.12283-7C>T | |
| NM_000540.3:c.12283-7C>T MANE Select | NP_000531.2:n.12283-7C>T | |
| NM_001042723.2:c.12268-7C>T | NP_001036188.1:n.12268-7C>T |