HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189010685T>A , CM000664.2:g.189010685T>A | GRCh38 |
NC_000002.11:g.189875411T>A , CM000664.1:g.189875411T>A | GRCh37 |
NC_000002.10:g.189583656T>A | NCBI36 |
NG_007404.1:g.41313T>A , LRG_3:g.41313T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000450867.2:c.3950T>A | ENSP00000415346.2:p.Leu1317His | |
ENST00000304636.9:c.4049T>A MANE Select | ENSP00000304408.4:p.Leu1350His | |
ENST00000304636.7:c.4049T>A | ENSP00000304408.3:p.Leu1350His | |
ENST00000317840.9:c.3140T>A | ENSP00000315243.6:p.Leu1047His | |
ENST00000487010.1:n.1428T>A | ||
NM_000090.3:c.4049T>A , LRG_3t1:c.4049T>A | NP_000081.1:p.Leu1350His | |
NM_000090.4:c.4049T>A MANE Select | NP_000081.2:p.Leu1350His |