Linked Data
ClinVar Variation Id:
386812
dbSNP Id:
rs370368596
ExAC:
3:52415858 C / T
gnomAD v2:
3-52415858-C-T
gnomAD v3:
3-52381842-C-T
gnomAD v4:
3-52381842-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52381842C>T , CM000665.2:g.52381842C>T | GRCh38 |
| NC_000003.11:g.52415858C>T , CM000665.1:g.52415858C>T | GRCh37 |
| NC_000003.10:g.52390898C>T | NCBI36 |
| NG_052911.1:g.70524C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420323.7:c.7805+6C>T MANE Select | ENSP00000401514.2:n.7805+6C>T | |
| ENST00000420323.6:c.7805+6C>T | ENSP00000401514.2:n.7805+6C>T | |
| ENST00000486752.5:n.8066+6C>T | ||
| NM_015512.4:c.7805+6C>T | NP_056327.4:n.7805+6C>T | |
| XM_011533577.1:c.7874+6C>T | XP_011531879.1:n.7874+6C>T | |
| XM_017006129.1:c.7874+6C>T | XP_016861618.1:n.7874+6C>T | |
| XM_017006130.1:c.7805+6C>T | XP_016861619.1:n.7805+6C>T | |
| XM_017006131.1:c.7874+6C>T | XP_016861620.1:n.7874+6C>T | |
| XM_017006132.1:c.7874+6C>T | XP_016861621.1:n.7874+6C>T | |
| XM_017006133.1:c.7874+6C>T | XP_016861622.1:n.7874+6C>T | |
| XR_001740098.1:n.11023+6C>T | ||
| XR_001740099.1:n.11023+6C>T | ||
| NM_015512.5:c.7805+6C>T MANE Select | NP_056327.4:n.7805+6C>T |