Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169555138G= , CM000663.2:g.169555138G= | GRCh38 |
| NC_000001.10:g.169524376G= , CM000663.1:g.169524376G= | GRCh37 |
| NC_000001.9:g.167791000G= | NCBI36 |
| NG_011806.1:g.36394C= , LRG_553:g.36394C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.1118+44C= MANE Select | ENSP00000356771.3:n.1118+44C= | |
| ENST00000367796.3:c.1118+44C= | ENSP00000356770.3:n.1118+44C= | |
| ENST00000367797.7:c.1118+44C= | ENSP00000356771.3:n.1118+44C= | |
| NM_000130.4:c.1118+44C= , LRG_553t1:c.1118+44C= | NP_000121.2:n.1118+44C= | |
| XM_017000660.2:c.707+44C= | XP_016856149.1:n.707+44C= | |
| NM_000130.5:c.1118+44C= MANE Select | NP_000121.2:n.1118+44C= |