Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108147610T>C , CM000673.2:g.108147610T>C | GRCh38 |
| NC_000011.9:g.108018337T>C , CM000673.1:g.108018337T>C | GRCh37 |
| NC_000011.8:g.107523547T>C | NCBI36 |
| NG_009888.1:g.31080T>C | |
| NG_009888.2:g.35906T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265838.8:c.*220T>C | ENSP00000265838.4:n.*220T>C | |
| NM_000019.3:c.*220T>C | NP_000010.1:n.*220T>C | |
| XM_006718834.2:c.*220T>C | XP_006718897.1:n.*220T>C | |
| XM_006718835.2:c.*220T>C | XP_006718898.1:n.*220T>C | |
| XM_017017682.2:c.*220T>C | XP_016873171.1:n.*220T>C | |
| XM_017017683.2:c.*220T>C | XP_016873172.1:n.*220T>C |