Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154996945C= , CM000685.2:g.154996945C= | GRCh38 |
| NC_000023.10:g.154225220C= , CM000685.1:g.154225220C= | GRCh37 |
| NC_000023.9:g.153878414C= | NCBI36 |
| NG_011403.1:g.30779G= | |
| NG_011403.2:g.30779G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.388+28G= MANE Select | ENSP00000353393.4:n.388+28G= | |
| ENST00000647125.1:c.*174+28G= | ENSP00000496062.1:n.*174+28G= | |
| ENST00000360256.8:c.388+28G= | ENSP00000353393.4:n.388+28G= | |
| ENST00000423959.5:c.283+28G= | ENSP00000409446.1:n.283+28G= | |
| ENST00000453950.1:c.370+28G= | ENSP00000389153.1:n.370+28G= | |
| NM_000132.3:c.388+28G= | NP_000123.1:n.388+28G= | |
| XM_011531126.1:c.283+28G= | XP_011529428.1:n.283+28G= | |
| NM_000132.4:c.388+28G= MANE Select | NP_000123.1:n.388+28G= |