Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128842788C= , CM000669.2:g.128842788C= | GRCh38 |
| NC_000007.13:g.128482842C= , CM000669.1:g.128482842C= | GRCh37 |
| NC_000007.12:g.128270078C= | NCBI36 |
| NG_011807.1:g.17360C= , LRG_870:g.17360C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.2390-6C= MANE Select | ENSP00000327145.8:n.2390-6C= | |
| ENST00000325888.12:c.2390-6C= | ENSP00000327145.8:n.2390-6C= | |
| ENST00000346177.6:c.2390-6C= | ENSP00000344002.6:n.2390-6C= | |
| ENST00000388853.3:n.506-6C= | ||
| NM_001127487.1:c.2390-6C= | NP_001120959.1:n.2390-6C= | |
| NM_001458.4:c.2390-6C= , LRG_870t1:c.2390-6C= | NP_001449.3:n.2390-6C= | |
| NM_001127487.2:c.2390-6C= | NP_001120959.1:n.2390-6C= | |
| NM_001458.5:c.2390-6C= MANE Select | NP_001449.3:n.2390-6C= |