Linked Data
ClinVar Variation Id:
261220
ClinVar RCV Id:
RCV000253041
dbSNP Id:
rs369355291
ExAC:
1:45323518 C / T
gnomAD v2:
1-45323518-C-T
gnomAD v3:
1-44857846-C-T
gnomAD v4:
1-44857846-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44857846C>T , CM000663.2:g.44857846C>T | GRCh38 |
| NC_000001.10:g.45323518C>T , CM000663.1:g.45323518C>T | GRCh37 |
| NC_000001.9:g.45096105C>T | NCBI36 |
| NG_015864.1:g.133844G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360403.7:c.1203-39G>A MANE Select | ENSP00000353575.2:n.1203-39G>A | |
| ENST00000360403.6:c.1203-39G>A | ENSP00000353575.2:n.1203-39G>A | |
| ENST00000439363.5:c.665-6843G>A | ||
| ENST00000620860.4:c.1203-6843G>A | ENSP00000483996.1:n.1203-6843G>A | |
| NM_001261418.1:c.1203-6843G>A | NP_001248347.1:n.1203-6843G>A | |
| NM_020365.4:c.1203-39G>A | NP_065098.1:n.1203-39G>A | |
| XM_011542396.1:c.1113-39G>A | XP_011540698.1:n.1113-39G>A | |
| XM_017002747.1:c.816-39G>A | XP_016858236.1:n.816-39G>A | |
| NM_020365.5:c.1203-39G>A MANE Select | NP_065098.1:n.1203-39G>A | |
| NM_001261418.2:c.1203-6843G>A | NP_001248347.1:n.1203-6843G>A |