Linked Data
ClinVar Variation Id:
427697
ClinVar RCV Id:
RCV000497528
dbSNP Id:
rs1554614157
PubMed:
PMID:28795510
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86668170T>A , CM000670.2:g.86668170T>A | GRCh38 |
| NC_000008.10:g.87680398T>A , CM000670.1:g.87680398T>A | GRCh37 |
| NC_000008.9:g.87749514T>A | NCBI36 |
| NG_016980.1:g.80506A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.494-2A>T MANE Select | ENSP00000316605.5:n.494-2A>T | |
| ENST00000680314.1:n.255-2A>T | ||
| ENST00000681746.1:c.494-2A>T | ENSP00000505959.1:n.494-2A>T | |
| ENST00000320005.5:c.494-2A>T | ENSP00000316605.5:n.494-2A>T | |
| NM_019098.4:c.494-2A>T | NP_061971.3:n.494-2A>T | |
| XM_011517138.1:c.80-2A>T | XP_011515440.1:n.80-2A>T | |
| XM_011517138.2:c.80-2A>T | XP_011515440.1:n.80-2A>T | |
| NM_019098.5:c.494-2A>T MANE Select | NP_061971.3:n.494-2A>T |