Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44296447T= , CM000683.2:g.44296447T= | GRCh38 |
| NC_000021.8:g.45716330T= , CM000683.1:g.45716330T= | GRCh37 |
| NC_000021.7:g.44540758T= | NCBI36 |
| NG_009556.1:g.15568T= , LRG_18:g.15568T= | |
| NG_034033.1:g.1414T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.1566+2T= MANE Select | NP_000374.1:n.1566+2T= |
| ENST00000291582.6:c.1566+2T= MANE Select | ENSP00000291582.5:n.1566+2T= |
| NM_000383.3:c.1566+2T= | NP_000374.1:n.1566+2T= |
| ENST00000291582.5:c.1566+2T= | ENSP00000291582.5:n.1566+2T= |
| ENST00000337909.5:n.1027+2T= | |
| ENST00000397994.8:n.945+2T= | |
| ENST00000527919.5:n.2325+2T= | |
| ENST00000530812.5:n.3313+2T= | |
| XM_011529551.1:c.1563+2T= | XP_011527853.1:n.1563+2T= |