Linked Data
dbSNP Id:
rs602201
gnomAD v2:
18-11882268-T-A
gnomAD v3:
18-11882269-T-A
gnomAD v4:
18-11882269-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.11882269T>A , CM000680.2:g.11882269T>A | GRCh38 |
| NC_000018.9:g.11882268T>A , CM000680.1:g.11882268T>A | GRCh37 |
| NC_000018.8:g.11872268T>A | NCBI36 |
| NG_033866.1:g.198255T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334049.11:c.*1134T>A MANE Select | ENSP00000334051.5:n.*1134T>A | |
| ENST00000423027.8:c.*1134T>A MANE Plus Clinical | ENSP00000408489.2:n.*1134T>A | |
| ENST00000334049.10:c.*1134T>A | ENSP00000334051.5:n.*1134T>A | |
| NM_001142339.2:c.*1134T>A | NP_001135811.1:n.*1134T>A | |
| NM_001261443.1:c.*1134T>A | NP_001248372.1:n.*1134T>A | |
| NM_001261444.1:c.*1134T>A | NP_001248373.1:n.*1134T>A | |
| NM_182978.3:c.*1134T>A | NP_892023.1:n.*1134T>A | |
| XM_024451164.1:c.*1134T>A | XP_024306932.1:n.*1134T>A | |
| NM_182978.4:c.*1134T>A MANE Select | NP_892023.1:n.*1134T>A | |
| NM_001261444.2:c.*1134T>A | NP_001248373.1:n.*1134T>A | |
| NM_001369387.1:c.*1134T>A MANE Plus Clinical | NP_001356316.1:n.*1134T>A | |
| NM_001142339.3:c.*1134T>A | NP_001135811.1:n.*1134T>A | |
| NM_001261443.2:c.*1134T>A | NP_001248372.1:n.*1134T>A |