HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154957103C>G , CM000685.2:g.154957103C>G | GRCh38 |
NC_000023.10:g.154185378C>G , CM000685.1:g.154185378C>G | GRCh37 |
NC_000023.9:g.153838572C>G | NCBI36 |
NG_011403.1:g.70621G>C | |
NG_011403.2:g.70621G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.1606G>C MANE Select | ENSP00000353393.4:p.Val536Leu | |
ENST00000647125.1:c.*1482G>C | ENSP00000496062.1:n.*1482G>C | |
ENST00000360256.8:c.1606G>C | ENSP00000353393.4:p.Val536Leu | |
NM_000132.3:c.1606G>C | NP_000123.1:p.Val536Leu | |
XM_011531126.1:c.1501G>C | XP_011529428.1:p.Val501Leu | |
NM_000132.4:c.1606G>C MANE Select | NP_000123.1:p.Val536Leu |