Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35831049T= , CM000681.2:g.35831049T= | GRCh38 |
| NC_000019.9:g.36321951T= , CM000681.1:g.36321951T= | GRCh37 |
| NC_000019.8:g.41013791T= | NCBI36 |
| NG_013356.2:g.43239A= , LRG_693:g.43239A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004646.4:c.3481+4A= MANE Select | NP_004637.1:n.3481+4A= |
| ENST00000378910.10:c.3481+4A= MANE Select | ENSP00000368190.4:n.3481+4A= |
| NM_004646.3:c.3481+4A= , LRG_693t1:c.3481+4A= | NP_004637.1:n.3481+4A= |
| ENST00000353632.6:c.3361+4A= | ENSP00000343634.5:n.3361+4A= |
| ENST00000378910.9:c.3481+4A= | ENSP00000368190.4:n.3481+4A= |