Linked Data
ClinVar Variation Id:
2172749
dbSNP Id:
rs149256672
ExAC:
2:189923587 C / T
gnomAD v2:
2-189923587-C-T
gnomAD v3:
2-189058861-C-T
gnomAD v4:
2-189058861-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189058861C>T , CM000664.2:g.189058861C>T | GRCh38 |
| NC_000002.11:g.189923587C>T , CM000664.1:g.189923587C>T | GRCh37 |
| NC_000002.10:g.189631832C>T | NCBI36 |
| NG_011799.1:g.126019G>A | |
| NG_011799.2:g.126019G>A | |
| NG_011799.3:g.171441G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.2118G>A MANE Select | ENSP00000364000.3:p.Pro706= | |
| ENST00000374866.7:c.2118G>A | ENSP00000364000.3:p.Pro706= | |
| ENST00000470524.2:n.224G>A | ||
| ENST00000618828.1:c.957G>A | ENSP00000482184.1:p.Pro319= | |
| NM_000393.3:c.2118G>A | NP_000384.2:p.Pro706= | |
| XM_011510573.1:c.1980G>A | XP_011508875.1:p.Pro660= | |
| NM_000393.4:c.2118G>A | NP_000384.2:p.Pro706= | |
| XM_011510573.3:c.1980G>A | XP_011508875.1:p.Pro660= | |
| NM_000393.5:c.2118G>A MANE Select | NP_000384.2:p.Pro706= |