Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66250331T>C , CM000674.2:g.66250331T>C | GRCh38 |
| NC_000012.11:g.66644111T>C , CM000674.1:g.66644111T>C | GRCh37 |
| NC_000012.10:g.64930378T>C | NCBI36 |
| NG_021194.1:g.66134T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007199.3:c.*2160T>C MANE Select | NP_009130.2:n.*2160T>C |
| ENST00000261233.9:c.*2160T>C MANE Select | ENSP00000261233.4:n.*2160T>C |
| NM_001142523.1:c.*2160T>C | NP_001135995.1:n.*2160T>C |
| NM_001142523.2:c.*2160T>C | NP_001135995.1:n.*2160T>C |
| NM_007199.2:c.*2160T>C | NP_009130.2:n.*2160T>C |
| ENST00000261233.8:c.*2160T>C | ENSP00000261233.4:n.*2160T>C |