Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23867937G= , CM000663.2:g.23867937G= | GRCh38 |
| NC_000001.10:g.24194427G= , CM000663.1:g.24194427G= | GRCh37 |
| NC_000001.9:g.24067014G= | NCBI36 |
| NG_013346.1:g.5433C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.350C= MANE Select | ENSP00000363603.3:p.Pro117= | |
| ENST00000374479.3:c.350C= | ENSP00000363603.3:p.Pro117= | |
| NM_000147.4:c.350C= | NP_000138.2:p.Pro117= | |
| XM_005245821.1:c.-200C= | XP_005245878.1:n.-200C= | |
| XM_005245821.3:c.-200C= | XP_005245878.1:n.-200C= | |
| NM_000147.5:c.350C= MANE Select | NP_000138.2:p.Pro117= | |
| NR_174379.1:n.354C= | ||
| NR_174380.1:n.354C= | ||
| NR_174381.1:n.354C= | ||
| NR_174382.1:n.354C= |