HGVS | Genome Assembly |
---|---|
NC_000006.12:g.160032965A>C , CM000668.2:g.160032965A>C | GRCh38 |
NC_000006.11:g.160453997A>C , CM000668.1:g.160453997A>C | GRCh37 |
NC_000006.10:g.160373987A>C | NCBI36 |
NG_011785.3:g.68867A>C | |
NG_011785.4:g.68867A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356956.6:c.1069A>C MANE Select | ENSP00000349437.1:p.Lys357Gln | |
ENST00000649737.1:n.306A>C | ||
ENST00000676781.1:c.1069A>C | ENSP00000504419.1:p.Lys357Gln | |
ENST00000677704.1:c.1069A>C | ENSP00000503314.1:p.Lys357Gln | |
ENST00000356956.5:c.1069A>C | ENSP00000349437.1:p.Lys357Gln | |
NM_000876.2:c.1069A>C | NP_000867.2:p.Lys357Gln | |
XR_942419.1:n.1084A>C | ||
NM_000876.3:c.1069A>C | NP_000867.2:p.Lys357Gln | |
NM_000876.4:c.1069A>C MANE Select | NP_000867.3:p.Lys357Gln |