HGVS | Genome Assembly |
---|---|
NC_000007.14:g.142957971A>C , CM000669.2:g.142957971A>C | GRCh38 |
NC_000007.13:g.142655058A>C , CM000669.1:g.142655058A>C | GRCh37 |
NC_000007.12:g.142365180A>C | NCBI36 |
NG_007492.1:g.9446T>G | |
NG_007492.2:g.9446T>G | |
NG_007492.3:g.9446T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355265.7:c.528T>G MANE Select | ENSP00000347409.2:p.Leu176= | |
ENST00000467543.6:c.*380T>G | ENSP00000420011.2:n.*380T>G | |
ENST00000355265.6:c.528T>G | ENSP00000347409.2:p.Leu176= | |
ENST00000467543.5:c.471T>G | ENSP00000420011.1:p.Leu157= | |
ENST00000476829.5:c.525+333T>G | ENSP00000419889.1:n.525+333T>G | |
ENST00000479768.6:n.646T>G | ||
ENST00000494148.1:n.127T>G | ||
NM_000420.2:c.528T>G | NP_000411.1:p.Leu176= | |
XM_005249993.2:c.564T>G | XP_005250050.1:p.Leu188= | |
NM_000420.3:c.528T>G MANE Select | NP_000411.1:p.Leu176= |