Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30594837C>A , CM000669.2:g.30594837C>A | GRCh38 |
| NC_000007.13:g.30634453C>A , CM000669.1:g.30634453C>A | GRCh37 |
| NC_000007.12:g.30600978C>A | NCBI36 |
| NG_007942.1:g.5273C>A , LRG_243:g.5273C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001316772.1:c.-247C>A | NP_001303701.1:n.-247C>A |
| NM_002047.2:c.-85C>A , LRG_243t1:c.-85C>A | NP_002038.2:n.-85C>A |
| ENST00000389266.7:c.-85C>A | ENSP00000373918.3:n.-85C>A |
| ENST00000470392.2:n.6C>A | |
| ENST00000674643.1:c.-85C>A | ENSP00000501636.1:n.-85C>A |
| ENST00000674807.1:c.-85C>A | ENSP00000502814.1:n.-85C>A |
| ENST00000675051.1:c.22-3959C>A | ENSP00000502296.1:n.22-3959C>A |
| ENST00000675529.1:c.-85C>A | ENSP00000501655.1:n.-85C>A |
| ENST00000675810.1:c.-85C>A | ENSP00000502743.1:n.-85C>A |