Linked Data
ClinVar Variation Id:
333122
dbSNP Id:
rs77413180
gnomAD v2:
2-189898373-G-A
gnomAD v3:
2-189033647-G-A
gnomAD v4:
2-189033647-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189033647G>A , CM000664.2:g.189033647G>A | GRCh38 |
| NC_000002.11:g.189898373G>A , CM000664.1:g.189898373G>A | GRCh37 |
| NC_000002.10:g.189606618G>A | NCBI36 |
| NG_011799.1:g.151233C>T | |
| NG_011799.2:g.151233C>T | |
| NG_011799.3:g.196655C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.*423C>T MANE Select | ENSP00000364000.3:n.*423C>T | |
| ENST00000374866.7:c.*423C>T | ENSP00000364000.3:n.*423C>T | |
| ENST00000618828.1:c.*423C>T | ENSP00000482184.1:n.*423C>T | |
| NM_000393.3:c.*423C>T | NP_000384.2:n.*423C>T | |
| XM_011510573.1:c.*423C>T | XP_011508875.1:n.*423C>T | |
| NM_000393.4:c.*423C>T | NP_000384.2:n.*423C>T | |
| XM_011510573.3:c.*423C>T | XP_011508875.1:n.*423C>T | |
| NM_000393.5:c.*423C>T MANE Select | NP_000384.2:n.*423C>T |