Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35826582C= , CM000681.2:g.35826582C= | GRCh38 |
| NC_000019.9:g.36317484C= , CM000681.1:g.36317484C= | GRCh37 |
| NC_000019.8:g.41009324C= | NCBI36 |
| NG_013356.2:g.47706G= , LRG_693:g.47706G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.3658G= MANE Select | ENSP00000368190.4:p.Val1220= | |
| ENST00000353632.6:c.3538G= | ENSP00000343634.5:p.Val1180= | |
| ENST00000378910.9:c.3658G= | ENSP00000368190.4:p.Val1220= | |
| NM_004646.3:c.3658G= , LRG_693t1:c.3658G= | NP_004637.1:p.Val1220= | |
| NM_004646.4:c.3658G= MANE Select | NP_004637.1:p.Val1220= |