Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169555168C= , CM000663.2:g.169555168C= | GRCh38 |
| NC_000001.10:g.169524406C= , CM000663.1:g.169524406C= | GRCh37 |
| NC_000001.9:g.167791030C= | NCBI36 |
| NG_011806.1:g.36364G= , LRG_553:g.36364G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.1118+14G= MANE Select | ENSP00000356771.3:n.1118+14G= | |
| ENST00000367796.3:c.1118+14G= | ENSP00000356770.3:n.1118+14G= | |
| ENST00000367797.7:c.1118+14G= | ENSP00000356771.3:n.1118+14G= | |
| NM_000130.4:c.1118+14G= , LRG_553t1:c.1118+14G= | NP_000121.2:n.1118+14G= | |
| XM_017000660.2:c.707+14G= | XP_016856149.1:n.707+14G= | |
| NM_000130.5:c.1118+14G= MANE Select | NP_000121.2:n.1118+14G= |