Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71720692G>A , CM000667.2:g.71720692G>A | GRCh38 |
| NC_000005.9:g.71016519G>A , CM000667.1:g.71016519G>A | GRCh37 |
| NC_000005.8:g.71052275G>A | NCBI36 |
| NG_015988.1:g.6530G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296777.5:c.*77G>A MANE Select | ENSP00000296777.4:n.*77G>A | |
| ENST00000296777.4:c.*77G>A | ENSP00000296777.4:n.*77G>A | |
| ENST00000513096.1:n.570G>A | ||
| NM_004291.3:c.*77G>A | NP_004282.1:n.*77G>A | |
| NM_004291.4:c.*77G>A MANE Select | NP_004282.1:n.*77G>A |