HGVS | Genome Assembly |
---|---|
NC_000012.12:g.4372628A>G , CM000674.2:g.4372628A>G | GRCh38 |
NC_000012.11:g.4481794A>G , CM000674.1:g.4481794A>G | GRCh37 |
NC_000012.10:g.4352055A>G | NCBI36 |
NG_007087.1:g.12101T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000237837.2:c.281T>C MANE Select | ENSP00000237837.1:p.Leu94Pro | |
ENST00000648100.1:c.*1967+6346A>G | ENSP00000497536.1:n.*1967+6346A>G | |
ENST00000648269.1:n.1781T>C | ||
ENST00000674624.1:c.*1204+6346A>G | ENSP00000501898.1:n.*1204+6346A>G | |
ENST00000237837.1:c.281T>C | ENSP00000237837.1:p.Leu94Pro | |
NM_020638.2:c.281T>C | NP_065689.1:p.Leu94Pro | |
NM_020638.3:c.281T>C MANE Select | NP_065689.1:p.Leu94Pro |