Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17356226C= , CM000663.2:g.17356226C= | GRCh38 |
| NC_000001.10:g.17682721C= , CM000663.1:g.17682721C= | GRCh37 |
| NC_000001.9:g.17555308C= | NCBI36 |
| NG_023261.2:g.53037C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375448.4:c.1455+99C= MANE Select | ENSP00000364597.4:n.1455+99C= | |
| ENST00000467001.1:n.356+99C= | ||
| ENST00000487048.5:n.422+99C= | ||
| NM_012387.2:c.1455+99C= | NP_036519.2:n.1455+99C= | |
| XM_011541150.1:c.1269+99C= | XP_011539452.1:n.1269+99C= | |
| XM_011541151.1:c.1156-131C= | XP_011539453.1:n.1156-131C= | |
| XM_011541152.1:c.918+99C= | XP_011539454.1:n.918+99C= | |
| XM_011541157.1:c.564+99C= | XP_011539459.1:n.564+99C= | |
| NM_012387.3:c.1455+99C= MANE Select | NP_036519.2:n.1455+99C= |