Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3518190T= , CM000666.2:g.3518190T= | GRCh38 |
| NC_000004.11:g.3519917T= , CM000666.1:g.3519917T= | GRCh37 |
| NC_000004.10:g.3489715T= | NCBI36 |
| NG_033873.1:g.19308A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648517.1:c.595A= | ENSP00000496947.1:p.Ile199= | |
| ENST00000650182.1:c.595A= MANE Select | ENSP00000497444.1:p.Ile199= | |
| ENST00000296325.9:n.558A= | ||
| ENST00000500728.2:c.595A= | ENSP00000421922.1:p.Ile199= | |
| ENST00000509198.1:n.641A= | ||
| ENST00000515119.5:c.*372A= | ENSP00000421648.1:n.*372A= | |
| NM_002337.3:c.595A= | NP_002328.1:p.Ile199= | |
| NR_110005.1:n.558A= | ||
| NM_002337.4:c.595A= MANE Select | NP_002328.1:p.Ile199= | |
| XR_002959730.1:n.680A= | ||
| NR_110005.2:n.558A= |