Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151181399A= , CM000685.2:g.151181399A= | GRCh38 |
| NC_000023.10:g.150349871A= , CM000685.1:g.150349871A= | GRCh37 |
| NC_000023.9:g.150100529A= | NCBI36 |
| NG_016405.1:g.9816A= | |
| NG_016405.2:g.9816A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004224.3:c.1816A= MANE Select | NP_004215.2:p.Ile606= |
| ENST00000218316.4:c.1816A= MANE Select | ENSP00000218316.3:p.Ile606= |
| ENST00000218316.3:c.1816A= | ENSP00000218316.3:p.Ile606= |
| ENST00000617907.1:c.1810A= | ENSP00000484496.1:p.Ile604= |
| XM_011531216.1:c.1075A= | XP_011529518.1:p.Ile359= |
| XM_011531216.2:c.1075A= | XP_011529518.1:p.Ile359= |