Linked Data
dbSNP Id:
rs1296786780
gnomAD v2:
2-189963282-T-C
gnomAD v3:
2-189098556-T-C
gnomAD v4:
2-189098556-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189098556T>C , CM000664.2:g.189098556T>C | GRCh38 |
| NC_000002.11:g.189963282T>C , CM000664.1:g.189963282T>C | GRCh37 |
| NC_000002.10:g.189671527T>C | NCBI36 |
| NG_011799.1:g.86324A>G | |
| NG_011799.2:g.86324A>G | |
| NG_011799.3:g.131746A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.402+171A>G MANE Select | ENSP00000364000.3:n.402+171A>G | |
| ENST00000649966.1:c.264+171A>G | ENSP00000496785.1:n.264+171A>G | |
| ENST00000374866.7:c.402+171A>G | ENSP00000364000.3:n.402+171A>G | |
| ENST00000618828.1:c.-229+171A>G | ENSP00000482184.1:n.-229+171A>G | |
| NM_000393.3:c.402+171A>G | NP_000384.2:n.402+171A>G | |
| XM_011510573.1:c.264+171A>G | XP_011508875.1:n.264+171A>G | |
| NM_000393.4:c.402+171A>G | NP_000384.2:n.402+171A>G | |
| XM_011510573.3:c.264+171A>G | XP_011508875.1:n.264+171A>G | |
| NM_000393.5:c.402+171A>G MANE Select | NP_000384.2:n.402+171A>G |