Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436040T>G , CM000678.2:g.67436040T>G | GRCh38 |
| NC_000016.9:g.67469943T>G , CM000678.1:g.67469943T>G | GRCh37 |
| NC_000016.8:g.66027444T>G | NCBI36 |
| NG_011482.1:g.50147A>C | |
| NG_016549.1:g.9908T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.562T>G MANE Select | ENSP00000316786.5:p.Cys188Gly | |
| ENST00000326152.5:c.562T>G | ENSP00000316786.5:p.Cys188Gly | |
| ENST00000566606.1:c.540T>G | ENSP00000473429.1:n.540T>G | |
| ENST00000567684.2:n.425T>G | ||
| NM_000196.3:c.562T>G | NP_000187.3:p.Cys188Gly | |
| NM_000196.4:c.562T>G MANE Select | NP_000187.3:p.Cys188Gly |