Linked Data
dbSNP Id:
rs374225489
ExAC:
2:189963457 G / C
gnomAD v2:
2-189963457-G-C
gnomAD v4:
2-189098731-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189098731G>C , CM000664.2:g.189098731G>C | GRCh38 |
| NC_000002.11:g.189963457G>C , CM000664.1:g.189963457G>C | GRCh37 |
| NC_000002.10:g.189671702G>C | NCBI36 |
| NG_011799.1:g.86149C>G | |
| NG_011799.2:g.86149C>G | |
| NG_011799.3:g.131571C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.398C>G MANE Select | ENSP00000364000.3:p.Pro133Arg | |
| ENST00000649966.1:c.260C>G | ENSP00000496785.1:p.Pro87Arg | |
| ENST00000374866.7:c.398C>G | ENSP00000364000.3:p.Pro133Arg | |
| ENST00000618828.1:c.-233C>G | ENSP00000482184.1:n.-233C>G | |
| NM_000393.3:c.398C>G | NP_000384.2:p.Pro133Arg | |
| XM_011510573.1:c.260C>G | XP_011508875.1:p.Pro87Arg | |
| NM_000393.4:c.398C>G | NP_000384.2:p.Pro133Arg | |
| XM_011510573.3:c.260C>G | XP_011508875.1:p.Pro87Arg | |
| NM_000393.5:c.398C>G MANE Select | NP_000384.2:p.Pro133Arg |