HGVS | Genome Assembly |
---|---|
NC_000021.9:g.41756582G>C , CM000683.2:g.41756582G>C | GRCh38 |
NC_000021.8:g.43176742G>C , CM000683.1:g.43176742G>C | GRCh37 |
NC_000021.7:g.42049811G>C | NCBI36 |
NG_032113.1:g.15508C>G | |
NG_032113.2:g.15508C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000332512.8:c.417C>G MANE Select | ENSP00000332454.3:p.Leu139= | |
ENST00000332512.7:c.417C>G | ENSP00000332454.3:p.Leu139= | |
ENST00000352483.3:c.417C>G | ENSP00000330161.2:p.Leu139= | |
NM_020639.2:c.417C>G | NP_065690.2:p.Leu139= | |
NM_020639.3:c.417C>G MANE Select | NP_065690.2:p.Leu139= |