Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49635738C>G , CM000681.2:g.49635738C>G | GRCh38 |
| NC_000019.9:g.50138995C>G , CM000681.1:g.50138995C>G | GRCh37 |
| NC_000019.8:g.54830807C>G | NCBI36 |
| NG_042222.1:g.9406G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006270.5:c.568G>C MANE Select | NP_006261.1:p.Val190Leu |
| ENST00000246792.4:c.568G>C MANE Select | ENSP00000246792.2:p.Val190Leu |
| NM_006270.3:c.568G>C | NP_006261.1:p.Val190Leu |
| NM_006270.4:c.568G>C | NP_006261.1:p.Val190Leu |
| ENST00000246792.3:c.568G>C | ENSP00000246792.2:p.Val190Leu |