Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35844249G= , CM000681.2:g.35844249G= | GRCh38 |
| NC_000019.9:g.36335151G= , CM000681.1:g.36335151G= | GRCh37 |
| NC_000019.8:g.41026991G= | NCBI36 |
| NG_013356.2:g.30039C= , LRG_693:g.30039C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004646.4:c.2072-6C= MANE Select | NP_004637.1:n.2072-6C= |
| ENST00000378910.10:c.2072-6C= MANE Select | ENSP00000368190.4:n.2072-6C= |
| NM_004646.3:c.2072-6C= , LRG_693t1:c.2072-6C= | NP_004637.1:n.2072-6C= |
| ENST00000353632.6:c.2072-6C= | ENSP00000343634.5:n.2072-6C= |
| ENST00000378910.9:c.2072-6C= | ENSP00000368190.4:n.2072-6C= |
| ENST00000585400.1:n.254-6C= |