HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11965496T>C , CM000663.2:g.11965496T>C | GRCh38 |
NC_000001.10:g.12025553T>C , CM000663.1:g.12025553T>C | GRCh37 |
NC_000001.9:g.11948140T>C | NCBI36 |
NG_008159.1:g.35808T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000196061.5:c.1487T>C MANE Select | ENSP00000196061.4:p.Leu496Pro | |
ENST00000196061.4:c.1487T>C | ENSP00000196061.4:p.Leu496Pro | |
ENST00000470133.1:n.101T>C | ||
ENST00000491536.5:n.115T>C | ||
NM_000302.3:c.1487T>C | NP_000293.2:p.Leu496Pro | |
NM_001316320.1:c.1628T>C | NP_001303249.1:p.Leu543Pro | |
XM_011541594.1:c.1568T>C | XP_011539896.1:p.Leu523Pro | |
XM_024447707.1:c.821T>C | XP_024303475.1:p.Leu274Pro | |
NM_000302.4:c.1487T>C MANE Select | NP_000293.2:p.Leu496Pro | |
NM_001316320.2:c.1628T>C | NP_001303249.1:p.Leu543Pro |