Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45584758C>G , CM000681.2:g.45584758C>G | GRCh38 |
| NC_000019.9:g.46088016C>G , CM000681.1:g.46088016C>G | GRCh37 |
| NC_000019.8:g.50779856C>G | NCBI36 |
| NG_013332.1:g.5107G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025136.4:c.7G>C MANE Select | NP_079412.1:p.Val3Leu |
| ENST00000263275.5:c.7G>C MANE Select | ENSP00000263275.4:p.Val3Leu |
| NM_001017989.2:c.7G>C | NP_001017989.2:p.Val3Leu |
| NM_001017989.3:c.7G>C | NP_001017989.2:p.Val3Leu |
| NM_025136.3:c.7G>C | NP_079412.1:p.Val3Leu |
| ENST00000263275.4:c.7G>C | ENSP00000263275.3:p.Val3Leu |
| ENST00000323060.3:c.7G>C | ENSP00000319817.3:p.Val3Leu |
| ENST00000323060.4:c.7G>C | ENSP00000319817.3:p.Val3Leu |
| ENST00000544371.1:c.-18+17337G>C | ENSP00000442839.1:n.-18+17337G>C |