Linked Data
ClinVar Variation Id:
325051
dbSNP Id:
rs113765180
gnomAD v2:
17-72914105-G-A
gnomAD v3:
17-74918010-G-A
gnomAD v4:
17-74918010-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74918010G>A , CM000679.2:g.74918010G>A | GRCh38 |
| NC_000017.10:g.72914105G>A , CM000679.1:g.72914105G>A | GRCh37 |
| NC_000017.9:g.70425700G>A | NCBI36 |
| NG_007882.1:g.10247C>T | |
| NG_007882.2:g.10254C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.*63C>T MANE Select | ENSP00000480279.1:n.*63C>T | |
| ENST00000579243.1:c.*1048C>T | ENSP00000462568.1:n.*1048C>T | |
| ENST00000614341.4:c.*63C>T | ENSP00000480279.1:n.*63C>T | |
| NM_001282489.2:c.*63C>T | NP_001269418.1:n.*63C>T | |
| NM_173477.4:c.*63C>T | NP_775748.2:n.*63C>T | |
| XM_011524296.1:c.*63C>T | XP_011522598.1:n.*63C>T | |
| XM_011524296.2:c.*63C>T | XP_011522598.1:n.*63C>T | |
| NM_173477.5:c.*63C>T MANE Select | NP_775748.2:n.*63C>T | |
| NM_001282489.3:c.*63C>T | NP_001269418.1:n.*63C>T |