HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52811813C>G , CM000674.2:g.52811813C>G | GRCh38 |
NC_000012.11:g.53205597C>G , CM000674.1:g.53205597C>G | GRCh37 |
NC_000012.10:g.51491864C>G | NCBI36 |
NG_007380.1:g.7739G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000551956.2:c.627G>C MANE Select | ENSP00000448220.1:p.Leu209= | |
ENST00000548097.5:c.*139G>C | ENSP00000449755.1:n.*139G>C | |
ENST00000551436.1:n.185G>C | ||
ENST00000551956.1:c.627G>C | ENSP00000448220.1:p.Leu209= | |
ENST00000552668.1:c.*83-997G>C | ENSP00000447320.1:n.*83-997G>C | |
NM_002272.3:c.627G>C | NP_002263.3:p.Leu209= | |
NM_002272.4:c.627G>C MANE Select | NP_002263.3:p.Leu209= |