HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215817189A>G , CM000663.2:g.215817189A>G | GRCh38 |
NC_000001.10:g.215990531A>G , CM000663.1:g.215990531A>G | GRCh37 |
NC_000001.9:g.214057154A>G | NCBI36 |
NG_009497.1:g.611208T>C | |
NG_009497.2:g.611260T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.9378T>C MANE Select | ENSP00000305941.3:p.Leu3126= | |
ENST00000674083.1:c.9378T>C | ENSP00000501296.1:p.Leu3126= | |
ENST00000307340.7:c.9378T>C | ENSP00000305941.3:p.Leu3126= | |
NM_206933.2:c.9378T>C | NP_996816.2:p.Leu3126= | |
NM_206933.3:c.9378T>C | NP_996816.2:p.Leu3126= | |
NM_206933.4:c.9378T>C MANE Select | NP_996816.3:p.Leu3126= |