Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135031284G= , CM000667.2:g.135031284G= | GRCh38 |
| NC_000005.9:g.134366974G= , CM000667.1:g.134366974G= | GRCh37 |
| NC_000005.8:g.134394873G= | NCBI36 |
| NG_012114.1:g.7991C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.394C= MANE Select | ENSP00000265340.6:p.Arg132= | |
| ENST00000265340.11:c.394C= | ENSP00000265340.6:p.Arg132= | |
| ENST00000503586.1:c.516C= | ||
| ENST00000504936.1:n.727C= | ||
| ENST00000506438.5:c.394C= | ENSP00000427542.1:p.Arg132= | |
| NM_002653.4:c.394C= | NP_002644.4:p.Arg132= | |
| NM_002653.5:c.394C= MANE Select | NP_002644.4:p.Arg132= |