Linked Data
dbSNP Id:
rs780196717
ExAC:
2:189963509 G / C
gnomAD v2:
2-189963509-G-C
gnomAD v3:
2-189098783-G-C
gnomAD v4:
2-189098783-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189098783G>C , CM000664.2:g.189098783G>C | GRCh38 |
| NC_000002.11:g.189963509G>C , CM000664.1:g.189963509G>C | GRCh37 |
| NC_000002.10:g.189671754G>C | NCBI36 |
| NG_011799.1:g.86097C>G | |
| NG_011799.2:g.86097C>G | |
| NG_011799.3:g.131519C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.370-24C>G MANE Select | ENSP00000364000.3:n.370-24C>G | |
| ENST00000649966.1:c.232-24C>G | ENSP00000496785.1:n.232-24C>G | |
| ENST00000374866.7:c.370-24C>G | ENSP00000364000.3:n.370-24C>G | |
| ENST00000618828.1:c.-261-24C>G | ENSP00000482184.1:n.-261-24C>G | |
| NM_000393.3:c.370-24C>G | NP_000384.2:n.370-24C>G | |
| XM_011510573.1:c.232-24C>G | XP_011508875.1:n.232-24C>G | |
| NM_000393.4:c.370-24C>G | NP_000384.2:n.370-24C>G | |
| XM_011510573.3:c.232-24C>G | XP_011508875.1:n.232-24C>G | |
| NM_000393.5:c.370-24C>G MANE Select | NP_000384.2:n.370-24C>G |