Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1221151G>C , CM000667.2:g.1221151G>C | GRCh38 |
| NC_000005.9:g.1221266G>C , CM000667.1:g.1221266G>C | GRCh37 |
| NC_000005.8:g.1274266G>C | NCBI36 |
| NG_008282.1:g.24557G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001003841.3:c.1539G>C MANE Select | NP_001003841.1:p.Arg513Ser |
| ENST00000304460.11:c.1539G>C MANE Select | ENSP00000305302.10:p.Arg513Ser |
| NM_001003841.2:c.1539G>C | NP_001003841.1:p.Arg513Ser |
| ENST00000304460.10:c.1539G>C | ENSP00000305302.10:p.Arg513Ser |
| ENST00000515652.5:c.*484G>C | ENSP00000425701.1:n.*484G>C |