Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.155259861T= , CM000685.2:g.155259861T= | GRCh38 |
| NC_000023.10:g.154489146T= , CM000685.1:g.154489146T= | GRCh37 |
| NC_000023.9:g.154142340T= | NCBI36 |
| NG_012626.2:g.9701A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369454.4:c.*942A= MANE Select | ENSP00000358466.3:n.*942A= | |
| ENST00000369454.3:c.*942A= | ENSP00000358466.3:n.*942A= | |
| NM_171998.3:c.*942A= | NP_741995.1:n.*942A= | |
| NM_171998.4:c.*942A= MANE Select | NP_741995.1:n.*942A= |