Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.115381654C= , CM000671.2:g.115381654C= | GRCh38 |
| NC_000009.11:g.118143933C= , CM000671.1:g.118143933C= | GRCh37 |
| NC_000009.10:g.117183754C= | NCBI36 |
| NG_027530.1:g.244837C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017418.2:c.13+4939C= | NP_059114.1:n.13+4939C= |
| NR_163556.1:n.535+4939C= | |
| ENST00000374016.5:c.13+4939C= | ENSP00000363128.1:n.13+4939C= |
| XM_011518753.1:c.13+4939C= | XP_011517055.1:n.13+4939C= |