Linked Data
ClinVar Variation Id:
325034
ClinVar RCV Id:
RCV000352489
dbSNP Id:
rs1013013
gnomAD v2:
17-72912862-G-A
gnomAD v3:
17-74916770-G-A
gnomAD v4:
17-74916770-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74916770G>A , CM000679.2:g.74916770G>A | GRCh38 |
| NC_000017.10:g.72912862G>A , CM000679.1:g.72912862G>A | GRCh37 |
| NC_000017.9:g.70424457G>A | NCBI36 |
| NG_007882.1:g.11490C>T | |
| NG_007882.2:g.11494C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.*1303C>T MANE Select | ENSP00000480279.1:n.*1303C>T | |
| ENST00000614341.4:c.*1303C>T | ENSP00000480279.1:n.*1303C>T | |
| NM_001282489.2:c.*1303C>T | NP_001269418.1:n.*1303C>T | |
| NM_173477.4:c.*1303C>T | NP_775748.2:n.*1303C>T | |
| XM_011524296.1:c.*1303C>T | XP_011522598.1:n.*1303C>T | |
| XM_011524296.2:c.*1303C>T | XP_011522598.1:n.*1303C>T | |
| NM_173477.5:c.*1303C>T MANE Select | NP_775748.2:n.*1303C>T | |
| NM_001282489.3:c.*1303C>T | NP_001269418.1:n.*1303C>T |