Linked Data
gnomAD v4:
2-189050636-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189050636T>C , CM000664.2:g.189050636T>C | GRCh38 |
| NC_000002.11:g.189915362T>C , CM000664.1:g.189915362T>C | GRCh37 |
| NC_000002.10:g.189623607T>C | NCBI36 |
| NG_011799.1:g.134244A>G | |
| NG_011799.2:g.134244A>G | |
| NG_011799.3:g.179666A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.2972A>G MANE Select | ENSP00000364000.3:p.Gln991Arg | |
| ENST00000374866.7:c.2972A>G | ENSP00000364000.3:p.Gln991Arg | |
| ENST00000618828.1:c.1811A>G | ENSP00000482184.1:p.Gln604Arg | |
| NM_000393.3:c.2972A>G | NP_000384.2:p.Gln991Arg | |
| XM_011510573.1:c.2834A>G | XP_011508875.1:p.Gln945Arg | |
| NM_000393.4:c.2972A>G | NP_000384.2:p.Gln991Arg | |
| XM_011510573.3:c.2834A>G | XP_011508875.1:p.Gln945Arg | |
| NM_000393.5:c.2972A>G MANE Select | NP_000384.2:p.Gln991Arg |