Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992887C= , CM000670.2:g.16992887C= | GRCh38 |
| NC_000008.10:g.16850396C= , CM000670.1:g.16850396C= | GRCh37 |
| NC_000008.9:g.16894767C= | NCBI36 |
| NG_015978.1:g.14279G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*185G= MANE Select | ENSP00000180166.5:n.*185G= | |
| ENST00000180166.5:c.*185G= | ENSP00000180166.5:n.*185G= | |
| NM_019851.2:c.*185G= | NP_062825.1:n.*185G= | |
| NM_019851.3:c.*185G= MANE Select | NP_062825.1:n.*185G= |