Linked Data
gnomAD v4:
2-189050610-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189050610G>C , CM000664.2:g.189050610G>C | GRCh38 |
| NC_000002.11:g.189915336G>C , CM000664.1:g.189915336G>C | GRCh37 |
| NC_000002.10:g.189623581G>C | NCBI36 |
| NG_011799.1:g.134270C>G | |
| NG_011799.2:g.134270C>G | |
| NG_011799.3:g.179692C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.2998C>G MANE Select | ENSP00000364000.3:p.Gln1000Glu | |
| ENST00000374866.7:c.2998C>G | ENSP00000364000.3:p.Gln1000Glu | |
| ENST00000618828.1:c.1837C>G | ENSP00000482184.1:p.Gln613Glu | |
| NM_000393.3:c.2998C>G | NP_000384.2:p.Gln1000Glu | |
| XM_011510573.1:c.2860C>G | XP_011508875.1:p.Gln954Glu | |
| NM_000393.4:c.2998C>G | NP_000384.2:p.Gln1000Glu | |
| XM_011510573.3:c.2860C>G | XP_011508875.1:p.Gln954Glu | |
| NM_000393.5:c.2998C>G MANE Select | NP_000384.2:p.Gln1000Glu |