Linked Data
ClinVar Variation Id:
782872
ClinVar RCV Id:
RCV000964326
dbSNP Id:
rs150225868
ExAC:
11:125316014 C / T
gnomAD v2:
11-125316014-C-T
gnomAD v3:
11-125446118-C-T
gnomAD v4:
11-125446118-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.125446118C>T , CM000673.2:g.125446118C>T | GRCh38 |
| NC_000011.9:g.125316014C>T , CM000673.1:g.125316014C>T | GRCh37 |
| NC_000011.8:g.124821224C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278919.8:c.1163-7G>A MANE Select | ENSP00000278919.3:n.1163-7G>A | |
| ENST00000648911.1:c.1163-7G>A | ENSP00000497070.1:n.1163-7G>A | |
| ENST00000278919.7:c.1163-7G>A | ENSP00000278919.3:n.1163-7G>A | |
| ENST00000524427.5:n.676-7G>A | ||
| ENST00000526507.5:n.177-7G>A | ||
| ENST00000527350.5:n.560-7G>A | ||
| ENST00000530096.1:n.1662-7G>A | ||
| NM_005103.4:c.1163-7G>A | NP_005094.1:n.1163-7G>A | |
| XM_005271734.2:c.1163-7G>A | XP_005271791.1:n.1163-7G>A | |
| XM_005271735.2:c.1163-7G>A | XP_005271792.1:n.1163-7G>A | |
| NM_005103.5:c.1163-7G>A MANE Select | NP_005094.1:n.1163-7G>A |