HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2411701C>G , CM000673.2:g.2411701C>G | GRCh38 |
NC_000011.9:g.2432931C>G , CM000673.1:g.2432931C>G | GRCh37 |
NC_000011.8:g.2389507C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696290.1:c.2541G>C MANE Select | ENSP00000512529.1:p.Leu847= | |
ENST00000155858.10:c.2541G>C | ENSP00000155858.5:p.Leu847= | |
ENST00000528453.1:c.2541G>C | ENSP00000436809.1:p.Leu847= | |
ENST00000533060.5:c.2541G>C | ENSP00000434121.1:p.Leu847= | |
ENST00000533881.5:c.2523G>C | ENSP00000434383.1:p.Leu841= | |
NM_014555.3:c.2541G>C | NP_055370.1:p.Leu847= | |
XM_011520035.1:c.2802G>C | XP_011518337.1:p.Leu934= | |
XM_017017628.1:c.2595G>C | XP_016873117.1:p.Leu865= | |
NM_014555.4:c.2541G>C MANE Select | NP_055370.1:p.Leu847= |