Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189050602T>G , CM000664.2:g.189050602T>G | GRCh38 |
| NC_000002.11:g.189915328T>G , CM000664.1:g.189915328T>G | GRCh37 |
| NC_000002.10:g.189623573T>G | NCBI36 |
| NG_011799.1:g.134278A>C | |
| NG_011799.2:g.134278A>C | |
| NG_011799.3:g.179700A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.3006A>C MANE Select | ENSP00000364000.3:p.Gly1002= | |
| ENST00000374866.7:c.3006A>C | ENSP00000364000.3:p.Gly1002= | |
| ENST00000618828.1:c.1845A>C | ENSP00000482184.1:p.Gly615= | |
| NM_000393.3:c.3006A>C | NP_000384.2:p.Gly1002= | |
| XM_011510573.1:c.2868A>C | XP_011508875.1:p.Gly956= | |
| NM_000393.4:c.3006A>C | NP_000384.2:p.Gly1002= | |
| XM_011510573.3:c.2868A>C | XP_011508875.1:p.Gly956= | |
| NM_000393.5:c.3006A>C MANE Select | NP_000384.2:p.Gly1002= |