Linked Data
ClinVar Variation Id:
2180289
ClinVar RCV Id:
RCV002602736
dbSNP Id:
rs1217084737
gnomAD v2:
13-110822884-A-G
gnomAD v4:
13-110170537-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110170537A>G , CM000675.2:g.110170537A>G | GRCh38 |
| NC_000013.10:g.110822884A>G , CM000675.1:g.110822884A>G | GRCh37 |
| NC_000013.9:g.109620885A>G | NCBI36 |
| NG_011544.2:g.141613T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3742+10T>C MANE Select | ENSP00000364979.4:n.3742+10T>C | |
| ENST00000375820.8:c.3742+10T>C | ENSP00000364979.4:n.3742+10T>C | |
| NM_001845.5:c.3742+10T>C | NP_001836.3:n.3742+10T>C | |
| XM_011521048.1:c.3550+10T>C | XP_011519350.1:n.3550+10T>C | |
| XM_011521048.2:c.3550+10T>C | XP_011519350.1:n.3550+10T>C | |
| NM_001845.6:c.3742+10T>C MANE Select | NP_001836.3:n.3742+10T>C |