Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562672G= , CM000682.2:g.57562672G= | GRCh38 |
| NC_000020.10:g.56137728G= , CM000682.1:g.56137728G= | GRCh37 |
| NC_000020.9:g.55571134G= | NCBI36 |
| NG_008205.1:g.6592G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.407-24G= MANE Select | ENSP00000319814.4:n.407-24G= | |
| ENST00000319441.5:c.407-24G= | ENSP00000319814.4:n.407-24G= | |
| ENST00000467047.1:n.1593G= | ||
| ENST00000498194.1:n.325G= | ||
| NM_002591.3:c.407-24G= | NP_002582.3:n.407-24G= | |
| XM_011528839.1:c.11-24G= | XP_011527141.1:n.11-24G= | |
| XM_024451888.1:c.11-24G= | XP_024307656.1:n.11-24G= | |
| NM_002591.4:c.407-24G= MANE Select | NP_002582.3:n.407-24G= |