Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624383C= , CM000679.2:g.41624383C= | GRCh38 |
| NC_000017.10:g.39780635C= , CM000679.1:g.39780635C= | GRCh37 |
| NC_000017.9:g.37034161C= | NCBI36 |
| NG_008625.1:g.5248G= | |
| NG_009090.2:g.167330G= , LRG_401:g.167330G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.127G= MANE Select | ENSP00000308452.8:p.Gly43= | |
| ENST00000311208.12:c.127G= | ENSP00000308452.8:p.Gly43= | |
| ENST00000463128.5:c.-312-177G= | ENSP00000468672.1:n.-312-177G= | |
| ENST00000491673.1:n.193G= | ||
| ENST00000540235.5:c.-79G= | ENSP00000441751.2:n.-79G= | |
| ENST00000577817.3:c.82G= | ENSP00000467418.1:p.Gly28= | |
| NM_000422.2:c.127G= | NP_000413.1:p.Gly43= | |
| NM_000422.3:c.127G= MANE Select | NP_000413.1:p.Gly43= |