Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766175C>G , CM000674.2:g.57766175C>G | GRCh38 |
| NC_000012.11:g.58159958C>G , CM000674.1:g.58159958C>G | GRCh37 |
| NC_000012.10:g.56446225C>G | NCBI36 |
| NG_007076.1:g.6019G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.130G>C | ||
| ENST00000713544.1:c.218G>C | ENSP00000518840.1:p.Gly73Ala | |
| ENST00000713545.1:c.218G>C | ENSP00000518841.1:p.Gly73Ala | |
| ENST00000228606.9:c.218G>C MANE Select | ENSP00000228606.4:p.Gly73Ala | |
| ENST00000228606.8:c.218G>C | ENSP00000228606.4:p.Gly73Ala | |
| ENST00000546496.1:n.46G>C | ||
| ENST00000546609.1:c.130G>C | ||
| ENST00000547344.5:n.272G>C | ||
| ENST00000552186.1:n.337G>C | ||
| NM_000785.3:c.218G>C | NP_000776.1:p.Gly73Ala | |
| NM_000785.4:c.218G>C MANE Select | NP_000776.1:p.Gly73Ala |