Linked Data
ClinVar Variation Id:
1174730
ClinVar RCV Id:
RCV001528625
dbSNP Id:
rs1230781262
gnomAD v2:
11-112099314-C-T
gnomAD v3:
11-112228591-C-T
gnomAD v4:
11-112228591-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112228591C>T , CM000673.2:g.112228591C>T | GRCh38 |
| NC_000011.9:g.112099314C>T , CM000673.1:g.112099314C>T | GRCh37 |
| NC_000011.8:g.111604524C>T | NCBI36 |
| NG_008743.1:g.7227C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280362.8:c.84-3C>T MANE Select | ENSP00000280362.3:n.84-3C>T | |
| ENST00000280362.7:c.84-3C>T | ENSP00000280362.3:n.84-3C>T | |
| ENST00000524931.1:c.-121-3C>T | ENSP00000434688.1:n.-121-3C>T | |
| ENST00000525645.1:n.159-3C>T | ||
| ENST00000525803.1:c.84-3C>T | ENSP00000431750.1:n.84-3C>T | |
| ENST00000528679.5:c.84-3C>T | ENSP00000435895.1:n.84-3C>T | |
| ENST00000531673.5:c.84-3C>T | ENSP00000433469.1:n.84-3C>T | |
| NM_000317.2:c.84-3C>T | NP_000308.1:n.84-3C>T | |
| NM_000317.3:c.84-3C>T MANE Select | NP_000308.1:n.84-3C>T |