Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.15765821T>C , CM000670.2:g.15765821T>C | GRCh38 |
| NC_000008.10:g.15623330T>C , CM000670.1:g.15623330T>C | GRCh37 |
| NC_000008.9:g.15667701T>C | NCBI36 |
| NG_012141.2:g.230601T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006765.4:c.*1665T>C MANE Select | NP_006756.2:n.*1665T>C |
| ENST00000503731.6:c.*1665T>C MANE Select | ENSP00000424544.1:n.*1665T>C |
| NM_006765.3:c.*1665T>C | NP_006756.2:n.*1665T>C |
| NM_178234.2:c.*1603T>C | NP_839952.1:n.*1603T>C |
| ENST00000382020.8:c.*1603T>C | ENSP00000371450.4:n.*1603T>C |