HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86579115T>C , CM000670.2:g.86579115T>C | GRCh38 |
NC_000008.10:g.87591343T>C , CM000670.1:g.87591343T>C | GRCh37 |
NC_000008.9:g.87660459T>C | NCBI36 |
NG_016980.1:g.169561A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000320005.6:c.1919A>G MANE Select | ENSP00000316605.5:p.Lys640Arg | |
ENST00000681546.1:n.1739A>G | ||
ENST00000681746.1:c.*330A>G | ENSP00000505959.1:n.*330A>G | |
ENST00000320005.5:c.1919A>G | ENSP00000316605.5:p.Lys640Arg | |
ENST00000517327.5:c.92A>G | ENSP00000428329.1:p.Lys31Arg | |
NM_019098.4:c.1919A>G | NP_061971.3:p.Lys640Arg | |
XM_011517138.1:c.1505A>G | XP_011515440.1:p.Lys502Arg | |
XM_011517138.2:c.1505A>G | XP_011515440.1:p.Lys502Arg | |
NM_019098.5:c.1919A>G MANE Select | NP_061971.3:p.Lys640Arg |