Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35849616C>G , CM000681.2:g.35849616C>G | GRCh38 |
| NC_000019.9:g.36340518C>G , CM000681.1:g.36340518C>G | GRCh37 |
| NC_000019.8:g.41032358C>G | NCBI36 |
| NG_013356.2:g.24672G>C , LRG_693:g.24672G>C | |
| NG_051206.1:g.2982C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004646.4:c.646G>C MANE Select | NP_004637.1:p.Val216Leu |
| ENST00000378910.10:c.646G>C MANE Select | ENSP00000368190.4:p.Val216Leu |
| NM_004646.3:c.646G>C , LRG_693t1:c.646G>C | NP_004637.1:p.Val216Leu |
| ENST00000353632.6:c.646G>C | ENSP00000343634.5:p.Val216Leu |
| ENST00000378910.9:c.646G>C | ENSP00000368190.4:p.Val216Leu |