Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94982060A>C , CM000672.2:g.94982060A>C | GRCh38 |
| NC_000010.10:g.96741817A>C , CM000672.1:g.96741817A>C | GRCh37 |
| NC_000010.9:g.96731807A>C | NCBI36 |
| NG_008385.1:g.48403A>C | |
| NG_008385.2:g.48903A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000771.4:c.1149+690A>C MANE Select | NP_000762.2:n.1149+690A>C |
| ENST00000260682.8:c.1149+690A>C MANE Select | ENSP00000260682.6:n.1149+690A>C |
| NM_000771.3:c.1149+690A>C | NP_000762.2:n.1149+690A>C |
| ENST00000260682.6:c.1149+690A>C | ENSP00000260682.6:n.1149+690A>C |
| ENST00000643112.1:c.*158+690A>C | ENSP00000496202.1:n.*158+690A>C |