Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41739391T>G , CM000683.2:g.41739391T>G | GRCh38 |
| NC_000021.8:g.43159551T>G , CM000683.1:g.43159551T>G | GRCh37 |
| NC_000021.7:g.42032620T>G | NCBI36 |
| NG_032113.1:g.32699A>C | |
| NG_032113.2:g.32699A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332512.8:c.*1447A>C MANE Select | ENSP00000332454.3:n.*1447A>C | |
| ENST00000332512.7:c.*1447A>C | ENSP00000332454.3:n.*1447A>C | |
| ENST00000352483.3:c.*1447A>C | ENSP00000330161.2:n.*1447A>C | |
| NM_020639.2:c.*1447A>C | NP_065690.2:n.*1447A>C | |
| NM_020639.3:c.*1447A>C MANE Select | NP_065690.2:n.*1447A>C |