HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8076333C>G , CM000679.2:g.8076333C>G | GRCh38 |
NC_000017.10:g.7979651C>G , CM000679.1:g.7979651C>G | GRCh37 |
NC_000017.9:g.7920376C>G | NCBI36 |
NG_007099.1:g.16371G>C | |
NG_007099.2:g.16384G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647874.1:c.1374G>C MANE Select | ENSP00000497784.1:p.Leu458= | |
ENST00000649809.1:c.438G>C | ENSP00000496845.1:p.Leu146= | |
ENST00000319144.4:c.1374G>C | ENSP00000315167.4:p.Leu458= | |
ENST00000577351.5:n.321G>C | ||
ENST00000583276.5:n.758G>C | ||
ENST00000584116.1:n.630G>C | ||
NM_001139.2:c.1374G>C | NP_001130.1:p.Leu458= | |
NM_001139.3:c.1374G>C MANE Select | NP_001130.1:p.Leu458= |