Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189050486T>C , CM000664.2:g.189050486T>C | GRCh38 |
| NC_000002.11:g.189915212T>C , CM000664.1:g.189915212T>C | GRCh37 |
| NC_000002.10:g.189623457T>C | NCBI36 |
| NG_011799.1:g.134394A>G | |
| NG_011799.2:g.134394A>G | |
| NG_011799.3:g.179816A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.3039+83A>G MANE Select | ENSP00000364000.3:n.3039+83A>G | |
| ENST00000374866.7:c.3039+83A>G | ENSP00000364000.3:n.3039+83A>G | |
| ENST00000618828.1:c.1878+83A>G | ENSP00000482184.1:n.1878+83A>G | |
| NM_000393.3:c.3039+83A>G | NP_000384.2:n.3039+83A>G | |
| XM_011510573.1:c.2901+83A>G | XP_011508875.1:n.2901+83A>G | |
| NM_000393.4:c.3039+83A>G | NP_000384.2:n.3039+83A>G | |
| XM_011510573.3:c.2901+83A>G | XP_011508875.1:n.2901+83A>G | |
| NM_000393.5:c.3039+83A>G MANE Select | NP_000384.2:n.3039+83A>G |