Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53965814G>C , CM000681.2:g.53965814G>C | GRCh38 |
| NC_000019.9:g.54469068G>C , CM000681.1:g.54469068G>C | GRCh37 |
| NC_000019.8:g.59160880G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270458.4:c.283+2389G>C MANE Select | ENSP00000270458.3:n.283+2389G>C | |
| ENST00000270458.2:c.283+2389G>C | ENSP00000270458.2:n.283+2389G>C | |
| NM_031895.5:c.283+2389G>C | NP_114101.4:n.283+2389G>C | |
| NM_031895.6:c.283+2389G>C MANE Select | NP_114101.4:n.283+2389G>C |