Linked Data
dbSNP Id:
rs1804220
ExAC:
17:4849169 C / T
gnomAD v2:
17-4849169-C-T
gnomAD v3:
17-4945874-C-T
gnomAD v4:
17-4945874-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4945874C>T , CM000679.2:g.4945874C>T | GRCh38 |
| NC_000017.10:g.4849169C>T , CM000679.1:g.4849169C>T | GRCh37 |
| NC_000017.9:g.4789914C>T | NCBI36 |
| NG_012063.2:g.4784C>T | |
| NG_032945.1:g.8213G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225655.6:c.*26G>A MANE Select | ENSP00000225655.5:n.*26G>A | |
| ENST00000225655.5:c.*26G>A | ENSP00000225655.5:n.*26G>A | |
| ENST00000574872.1:c.*26G>A | ENSP00000465019.1:n.*26G>A | |
| NM_005022.3:c.*26G>A | NP_005013.1:n.*26G>A | |
| XM_017024761.1:c.*533G>A | XP_016880250.1:n.*533G>A | |
| NM_001375991.1:c.*533G>A | NP_001362920.1:n.*533G>A | |
| NM_005022.4:c.*26G>A MANE Select | NP_005013.1:n.*26G>A |