Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1228100G>C , CM000667.2:g.1228100G>C | GRCh38 |
| NC_000005.9:g.1228215G>C , CM000667.1:g.1228215G>C | GRCh37 |
| NC_000005.8:g.1281215G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_182632.3:c.160+2463G>C MANE Select | NP_872438.2:n.160+2463G>C |
| ENST00000324642.4:c.160+2463G>C MANE Select | ENSP00000323549.3:n.160+2463G>C |
| NM_182632.2:c.160+2463G>C | NP_872438.2:n.160+2463G>C |
| ENST00000324642.3:c.160+2463G>C | ENSP00000323549.3:n.160+2463G>C |
| ENST00000513607.2:n.229+2463G>C |