Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288583G>C , CM000683.2:g.44288583G>C | GRCh38 |
| NC_000021.8:g.45708466G>C , CM000683.1:g.45708466G>C | GRCh37 |
| NC_000021.7:g.44532894G>C | NCBI36 |
| NG_009556.1:g.7704G>C , LRG_18:g.7704G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.652+125G>C MANE Select | ENSP00000291582.5:n.652+125G>C | |
| ENST00000291582.5:c.652+125G>C | ENSP00000291582.5:n.652+125G>C | |
| ENST00000527919.5:n.1196+125G>C | ||
| ENST00000530812.5:n.1329G>C | ||
| NM_000383.3:c.652+125G>C | NP_000374.1:n.652+125G>C | |
| XM_011529551.1:c.652+125G>C | XP_011527853.1:n.652+125G>C | |
| NM_000383.4:c.652+125G>C MANE Select | NP_000374.1:n.652+125G>C |