Linked Data
ClinVar Variation Id:
325032
ClinVar RCV Id:
RCV000397281
dbSNP Id:
rs886053384
gnomAD v3:
17-74916354-C-A
gnomAD v4:
17-74916354-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74916354C>A , CM000679.2:g.74916354C>A | GRCh38 |
| NC_000017.10:g.72912446C>A , CM000679.1:g.72912446C>A | GRCh37 |
| NC_000017.9:g.70424041C>A | NCBI36 |
| NG_007882.1:g.11906G>T | |
| NG_007882.2:g.11910G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614341.5:c.*1719G>T MANE Select | ENSP00000480279.1:n.*1719G>T | |
| ENST00000614341.4:c.*1719G>T | ENSP00000480279.1:n.*1719G>T | |
| NM_001282489.2:c.*1719G>T | NP_001269418.1:n.*1719G>T | |
| NM_173477.4:c.*1719G>T | NP_775748.2:n.*1719G>T | |
| XM_011524296.1:c.*1719G>T | XP_011522598.1:n.*1719G>T | |
| XM_011524296.2:c.*1719G>T | XP_011522598.1:n.*1719G>T | |
| NM_173477.5:c.*1719G>T MANE Select | NP_775748.2:n.*1719G>T | |
| NM_001282489.3:c.*1719G>T | NP_001269418.1:n.*1719G>T |