Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80852415C= , CM000667.2:g.80852415C= | GRCh38 |
| NC_000005.9:g.80148234C= , CM000667.1:g.80148234C= | GRCh37 |
| NC_000005.8:g.80183990C= | NCBI36 |
| NG_016607.1:g.202941C= | |
| NG_016607.2:g.202941C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002439.5:c.2814-1715C= MANE Select | NP_002430.3:n.2814-1715C= |
| ENST00000265081.7:c.2814-1715C= MANE Select | ENSP00000265081.6:n.2814-1715C= |
| NM_002439.4:c.2814-1715C= | NP_002430.3:n.2814-1715C= |
| ENST00000265081.6:c.2814-1715C= | ENSP00000265081.6:n.2814-1715C= |
| ENST00000658259.1:c.2646-1715C= | ENSP00000499617.1:n.2646-1715C= |
| ENST00000659302.1:c.222-1715C= | |
| ENST00000667069.1:c.2619-1715C= | ENSP00000499502.1:n.2619-1715C= |
| ENST00000670357.1:c.*138-1715C= | ENSP00000499791.1:n.*138-1715C= |