Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002077G>C , CM000664.2:g.21002077G>C | GRCh38 |
| NC_000002.11:g.21224949G>C , CM000664.1:g.21224949G>C | GRCh37 |
| NC_000002.10:g.21078454G>C | NCBI36 |
| NG_011793.1:g.46997C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.13345C>G MANE Select | ENSP00000233242.1:p.Gln4449Glu | |
| ENST00000616098.4:c.13343C>G | ENSP00000477990.1:n.13343C>G | |
| NM_000384.2:c.13345C>G | NP_000375.2:p.Gln4449Glu | |
| XM_011532809.1:c.5870-2804C>G | XP_011531111.1:n.5870-2804C>G | |
| NM_000384.3:c.13345C>G MANE Select | NP_000375.3:p.Gln4449Glu |