Linked Data
ClinVar Variation Id:
2808464
ClinVar RCV Id:
RCV003749416
dbSNP Id:
rs1369387084
gnomAD v3:
19-55154844-G-A
gnomAD v4:
19-55154844-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154844G>A , CM000681.2:g.55154844G>A | GRCh38 |
| NC_000019.9:g.55666212G>A , CM000681.1:g.55666212G>A | GRCh37 |
| NC_000019.8:g.60358024G>A | NCBI36 |
| NG_007866.2:g.7889C>T , LRG_432:g.7889C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.283-14C>T MANE Select | ENSP00000341838.5:n.283-14C>T | |
| ENST00000665070.1:c.283-14C>T | ENSP00000499482.1:n.283-14C>T | |
| ENST00000344887.9:c.283-14C>T | ENSP00000341838.5:n.283-14C>T | |
| ENST00000585806.5:n.282-14C>T | ||
| ENST00000586669.5:n.291-14C>T | ||
| ENST00000587176.5:n.467-14C>T | ||
| ENST00000587871.1:c.902-14C>T | ||
| ENST00000588882.1:c.208-14C>T | ENSP00000466729.1:n.208-14C>T | |
| ENST00000590463.1:n.455-14C>T | ||
| NM_000363.4:c.283-14C>T , LRG_432t1:c.283-14C>T | NP_000354.4:n.283-14C>T | |
| NM_000363.5:c.283-14C>T MANE Select | NP_000354.4:n.283-14C>T |