Linked Data
ClinVar Variation Id:
836787
ClinVar RCV Id:
RCV001037990
dbSNP Id:
rs748795436
ExAC:
3:38522839 C / T
gnomAD v2:
3-38522839-C-T
gnomAD v3:
3-38481348-C-T
gnomAD v4:
3-38481348-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38481348C>T , CM000665.2:g.38481348C>T | GRCh38 |
| NC_000003.11:g.38522839C>T , CM000665.1:g.38522839C>T | GRCh37 |
| NC_000003.10:g.38497843C>T | NCBI36 |
| NG_011791.1:g.32050C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352511.5:c.960-3C>T MANE Select | ENSP00000340361.3:n.960-3C>T | |
| ENST00000352511.4:c.960-3C>T | ENSP00000340361.3:n.960-3C>T | |
| ENST00000461232.1:n.4749-3C>T | ||
| ENST00000465020.5:n.1046-3C>T | ||
| NM_001106.3:c.960-3C>T | NP_001097.2:n.960-3C>T | |
| XM_005265583.2:c.1023-3C>T | XP_005265640.1:n.1023-3C>T | |
| XM_005265583.3:c.1023-3C>T | XP_005265640.1:n.1023-3C>T | |
| XM_017007514.1:c.1002-3C>T | XP_016863003.1:n.1002-3C>T | |
| XM_017007515.2:c.978-3C>T | XP_016863004.1:n.978-3C>T | |
| XM_017007516.1:c.957-3C>T | XP_016863005.1:n.957-3C>T | |
| NM_001106.4:c.960-3C>T MANE Select | NP_001097.2:n.960-3C>T |