Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51366309C>G , CM000681.2:g.51366309C>G | GRCh38 |
| NC_000019.9:g.51869563C>G , CM000681.1:g.51869563C>G | GRCh37 |
| NC_000019.8:g.56561375C>G | NCBI36 |
| NG_007115.1:g.5110G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001985.3:c.18G>C MANE Select | NP_001976.1:p.Val6= |
| ENST00000309244.9:c.18G>C MANE Select | ENSP00000311930.3:p.Val6= |
| NM_001985.2:c.18G>C | NP_001976.1:p.Val6= |
| ENST00000309244.8:c.18G>C | ENSP00000311930.3:p.Val6= |
| ENST00000593992.1:n.41G>C | |
| ENST00000596253.1:c.18G>C | ENSP00000469628.1:p.Val6= |
| ENST00000600067.1:c.115+1577G>C | ENSP00000469452.1:n.115+1577G>C |