Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302972C>G , CM000666.2:g.6302972C>G | GRCh38 |
| NC_000004.11:g.6304699C>G , CM000666.1:g.6304699C>G | GRCh37 |
| NC_000004.10:g.6355600C>G | NCBI36 |
| NG_011700.1:g.38123C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.*504C>G | ENSP00000507852.1:n.*504C>G | |
| ENST00000683395.1:c.3154C>G | ||
| ENST00000684087.1:c.*504C>G | ENSP00000506978.1:n.*504C>G | |
| ENST00000673991.1:c.*504C>G | ENSP00000501033.1:n.*504C>G | |
| ENST00000226760.5:c.*504C>G MANE Select | ENSP00000226760.1:n.*504C>G | |
| ENST00000507765.1:n.3362C>G | ||
| NM_001145853.1:c.*504C>G | NP_001139325.1:n.*504C>G | |
| NM_006005.3:c.*504C>G MANE Select | NP_005996.2:n.*504C>G | |
| XM_017008586.1:c.*504C>G | XP_016864075.1:n.*504C>G | |
| XR_001741566.2:n.1973G>C |