Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80473250C>G , CM000679.2:g.80473250C>G | GRCh38 |
| NC_000017.10:g.78447050C>G , CM000679.1:g.78447050C>G | GRCh37 |
| NC_000017.9:g.76061645C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000571100.2:c.133G>C | ENSP00000511957.1:p.Val45Leu | |
| ENST00000695485.1:n.270G>C | ||
| ENST00000306773.5:c.847G>C MANE Select | ENSP00000307549.4:p.Val283Leu | |
| ENST00000306773.4:c.847G>C | ENSP00000307549.4:p.Val283Leu | |
| ENST00000535681.1:n.1449G>C | ||
| ENST00000571100.1:n.497G>C | ||
| NM_002522.3:c.847G>C | NP_002513.2:p.Val283Leu | |
| NM_002522.4:c.847G>C MANE Select | NP_002513.2:p.Val283Leu |