Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151179756C= , CM000685.2:g.151179756C= | GRCh38 |
| NC_000023.10:g.150348228C= , CM000685.1:g.150348228C= | GRCh37 |
| NC_000023.9:g.150098886C= | NCBI36 |
| NG_016405.1:g.8173C= | |
| NG_016405.2:g.8173C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004224.3:c.188-15C= MANE Select | NP_004215.2:n.188-15C= |
| ENST00000218316.4:c.188-15C= MANE Select | ENSP00000218316.3:n.188-15C= |
| ENST00000218316.3:c.188-15C= | ENSP00000218316.3:n.188-15C= |
| ENST00000617907.1:c.188-15C= | ENSP00000484496.1:n.188-15C= |