Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.7042912C= , CM000680.2:g.7042912C= | GRCh38 |
| NC_000018.9:g.7042911C= , CM000680.1:g.7042911C= | GRCh37 |
| NC_000018.8:g.7032911C= | NCBI36 |
| NG_034251.1:g.79903G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005559.4:c.1155+315G= MANE Select | NP_005550.2:n.1155+315G= |
| ENST00000389658.4:c.1155+315G= MANE Select | ENSP00000374309.3:n.1155+315G= |
| NM_005559.3:c.1155+315G= | NP_005550.2:n.1155+315G= |
| ENST00000389658.3:c.1155+315G= | ENSP00000374309.3:n.1155+315G= |
| ENST00000579014.5:n.1509G= | |
| XM_011525655.1:c.1155+315G= | XP_011523957.1:n.1155+315G= |
| XM_011525655.2:c.1155+315G= | XP_011523957.1:n.1155+315G= |
| XM_011525657.1:c.1155+315G= | XP_011523959.1:n.1155+315G= |