Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223053443C>T , CM000664.2:g.223053443C>T | GRCh38 |
| NC_000002.11:g.223918161C>T , CM000664.1:g.223918161C>T | GRCh37 |
| NC_000002.10:g.223626405C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281830.4:c.*100C>T MANE Select | ENSP00000281830.5:n.*100C>T | |
| ENST00000281830.3:c.*100C>T | ENSP00000281830.4:n.*100C>T | |
| ENST00000488477.2:n.75+1169C>T | ||
| NM_080671.3:c.*100C>T | NP_542402.3:n.*100C>T | |
| NM_080671.4:c.*100C>T MANE Select | NP_542402.4:n.*100C>T |