HGVS | Genome Assembly |
---|---|
NC_000005.10:g.35875988A>C , CM000667.2:g.35875988A>C | GRCh38 |
NC_000005.9:g.35876090A>C , CM000667.1:g.35876090A>C | GRCh37 |
NC_000005.8:g.35911847A>C | NCBI36 |
NG_009567.1:g.24100A>C , LRG_74:g.24100A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303115.8:c.882A>C MANE Select | ENSP00000306157.3:p.Leu294Phe | |
ENST00000303115.7:c.882A>C | ENSP00000306157.3:p.Leu294Phe | |
ENST00000505093.1:c.197A>C | ENSP00000426069.1:p.Ter66Ser | |
ENST00000505875.1:n.180A>C | ||
ENST00000514217.5:c.*76A>C | ENSP00000427688.1:n.*76A>C | |
NM_002185.3:c.882A>C | NP_002176.2:p.Leu294Phe | |
NR_120485.1:n.722A>C | ||
XM_005248299.2:c.788A>C | XP_005248356.1:p.Ter263Ser | |
NM_002185.4:c.882A>C | NP_002176.2:p.Leu294Phe | |
NR_120485.2:n.748A>C | ||
XM_005248299.4:c.788A>C | XP_005248356.1:p.Ter263Ser | |
NM_002185.5:c.882A>C MANE Select | NP_002176.2:p.Leu294Phe | |
NR_120485.3:n.706A>C |