Linked Data
ClinVar Variation Id:
2881206
ClinVar RCV Id:
RCV003597791
dbSNP Id:
rs1362243934
gnomAD v2:
11-112100971-T-C
gnomAD v4:
11-112230248-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112230248T>C , CM000673.2:g.112230248T>C | GRCh38 |
| NC_000011.9:g.112100971T>C , CM000673.1:g.112100971T>C | GRCh37 |
| NC_000011.8:g.111606181T>C | NCBI36 |
| NG_008743.1:g.8884T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280362.8:c.186+18T>C MANE Select | ENSP00000280362.3:n.186+18T>C | |
| ENST00000280362.7:c.186+18T>C | ENSP00000280362.3:n.186+18T>C | |
| ENST00000524931.1:c.-19+18T>C | ENSP00000434688.1:n.-19+18T>C | |
| ENST00000525803.1:c.163+1575T>C | ENSP00000431750.1:n.163+1575T>C | |
| ENST00000528679.5:c.164-378T>C | ENSP00000435895.1:n.164-378T>C | |
| ENST00000531175.1:n.137+18T>C | ||
| ENST00000531673.5:c.164-378T>C | ENSP00000433469.1:n.164-378T>C | |
| NM_000317.2:c.186+18T>C | NP_000308.1:n.186+18T>C | |
| XM_011542943.1:c.147+18T>C | XP_011541245.1:n.147+18T>C | |
| NM_000317.3:c.186+18T>C MANE Select | NP_000308.1:n.186+18T>C |