Linked Data
dbSNP Id:
rs755099071
ExAC:
2:189927543 T / C
gnomAD v2:
2-189927543-T-C
gnomAD v4:
2-189062817-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189062817T>C , CM000664.2:g.189062817T>C | GRCh38 |
| NC_000002.11:g.189927543T>C , CM000664.1:g.189927543T>C | GRCh37 |
| NC_000002.10:g.189635788T>C | NCBI36 |
| NG_011799.1:g.122063A>G | |
| NG_011799.2:g.122063A>G | |
| NG_011799.3:g.167485A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.1977+48A>G MANE Select | ENSP00000364000.3:n.1977+48A>G | |
| ENST00000374866.7:c.1977+48A>G | ENSP00000364000.3:n.1977+48A>G | |
| ENST00000470524.2:n.83+48A>G | ||
| ENST00000618828.1:c.816+48A>G | ENSP00000482184.1:n.816+48A>G | |
| NM_000393.3:c.1977+48A>G | NP_000384.2:n.1977+48A>G | |
| XM_011510573.1:c.1839+48A>G | XP_011508875.1:n.1839+48A>G | |
| NM_000393.4:c.1977+48A>G | NP_000384.2:n.1977+48A>G | |
| XM_011510573.3:c.1839+48A>G | XP_011508875.1:n.1839+48A>G | |
| NM_000393.5:c.1977+48A>G MANE Select | NP_000384.2:n.1977+48A>G |