Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17356140G= , CM000663.2:g.17356140G= | GRCh38 |
| NC_000001.10:g.17682635G= , CM000663.1:g.17682635G= | GRCh37 |
| NC_000001.9:g.17555222G= | NCBI36 |
| NG_023261.2:g.52951G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375448.4:c.1455+13G= MANE Select | ENSP00000364597.4:n.1455+13G= | |
| ENST00000467001.1:n.356+13G= | ||
| ENST00000487048.5:n.422+13G= | ||
| NM_012387.2:c.1455+13G= | NP_036519.2:n.1455+13G= | |
| XM_011541150.1:c.1269+13G= | XP_011539452.1:n.1269+13G= | |
| XM_011541151.1:c.1156-217G= | XP_011539453.1:n.1156-217G= | |
| XM_011541152.1:c.918+13G= | XP_011539454.1:n.918+13G= | |
| XM_011541157.1:c.564+13G= | XP_011539459.1:n.564+13G= | |
| NM_012387.3:c.1455+13G= MANE Select | NP_036519.2:n.1455+13G= |