HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98541884T>G , CM000671.2:g.98541884T>G | GRCh38 |
NC_000009.11:g.101304166T>G , CM000671.1:g.101304166T>G | GRCh37 |
NC_000009.10:g.100343987T>G | NCBI36 |
NG_016426.1:g.172314A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259455.4:c.619A>C MANE Select | ENSP00000259455.2:p.Arg207= | |
ENST00000637410.1:n.397A>C | ||
ENST00000259455.3:c.619A>C | ENSP00000259455.2:p.Arg207= | |
ENST00000477471.1:n.406A>C | ||
ENST00000634227.1:n.393A>C | ||
NM_005458.7:c.619A>C | NP_005449.5:p.Arg207= | |
XM_017015331.2:c.325A>C | XP_016870820.1:p.Arg109= | |
NM_005458.8:c.619A>C MANE Select | NP_005449.5:p.Arg207= |