Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002320G= , CM000664.2:g.21002320G= | GRCh38 |
| NC_000002.11:g.21225192G= , CM000664.1:g.21225192G= | GRCh37 |
| NC_000002.10:g.21078697G= | NCBI36 |
| NG_011793.1:g.46754C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233242.5:c.13102C= MANE Select | ENSP00000233242.1:p.Gln4368= | |
| ENST00000616098.4:c.13100C= | ENSP00000477990.1:n.13100C= | |
| NM_000384.2:c.13102C= | NP_000375.2:p.Gln4368= | |
| XM_011532809.1:c.5870-3047C= | XP_011531111.1:n.5870-3047C= | |
| NM_000384.3:c.13102C= MANE Select | NP_000375.3:p.Gln4368= |