HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47572878G>C , CM000685.2:g.47572878G>C | GRCh38 |
NC_000023.10:g.47432277G>C , CM000685.1:g.47432277G>C | GRCh37 |
NC_000023.9:g.47317221G>C | NCBI36 |
NG_008437.1:g.51980C>G | |
NG_016339.1:g.16762G>C | |
NG_016339.2:g.16762G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295987.13:c.2104C>G MANE Select | ENSP00000295987.7:p.Leu702Val | |
ENST00000340666.5:c.*56C>G | ENSP00000343206.4:n.*56C>G | |
ENST00000640721.1:c.154C>G | ENSP00000492857.1:p.Leu52Val | |
ENST00000295987.11:c.2104C>G | ENSP00000295987.7:p.Leu702Val | |
ENST00000340666.4:c.*56C>G | ENSP00000343206.4:n.*56C>G | |
NM_006950.3:c.2104C>G MANE Select | NP_008881.2:p.Leu702Val | |
NM_133499.2:c.*56C>G | NP_598006.1:n.*56C>G |