Linked Data
ClinVar Variation Id:
1417019
ClinVar RCV Id:
RCV001936011
dbSNP Id:
rs2135410340
gnomAD v4:
11-112233235-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112233235T>C , CM000673.2:g.112233235T>C | GRCh38 |
| NC_000011.9:g.112103958T>C , CM000673.1:g.112103958T>C | GRCh37 |
| NC_000011.8:g.111609168T>C | NCBI36 |
| NG_008743.1:g.11871T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280362.8:c.314+2T>C MANE Select | ENSP00000280362.3:n.314+2T>C | |
| ENST00000280362.7:c.314+2T>C | ENSP00000280362.3:n.314+2T>C | |
| ENST00000524931.1:c.110+2T>C | ENSP00000434688.1:n.110+2T>C | |
| ENST00000525803.1:c.*48+2T>C | ENSP00000431750.1:n.*48+2T>C | |
| ENST00000527428.5:n.488+2T>C | ||
| ENST00000527635.1:n.355+2T>C | ||
| ENST00000528679.5:c.*123+2T>C | ENSP00000435895.1:n.*123+2T>C | |
| ENST00000531175.1:n.267T>C | ||
| ENST00000531673.5:c.*123+2T>C | ENSP00000433469.1:n.*123+2T>C | |
| NM_000317.2:c.314+2T>C | NP_000308.1:n.314+2T>C | |
| XM_011542943.1:c.275+2T>C | XP_011541245.1:n.275+2T>C | |
| NM_000317.3:c.314+2T>C MANE Select | NP_000308.1:n.314+2T>C |