HGVS | Genome Assembly |
---|---|
NC_000010.11:g.129467294T>C , CM000672.2:g.129467294T>C | GRCh38 |
NC_000010.10:g.131265558T>C , CM000672.1:g.131265558T>C | GRCh37 |
NC_000010.9:g.131155548T>C | NCBI36 |
NG_052673.1:g.5111T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306010.8:c.79T>C | ENSP00000302111.7:p.Leu27= | |
ENST00000651593.1:c.-15T>C MANE Select | ENSP00000498729.1:n.-15T>C | |
ENST00000306010.7:c.79T>C | ENSP00000302111.7:p.Leu27= | |
ENST00000482547.1:n.33T>C | ||
ENST00000482653.1:n.66T>C | ||
NM_002412.3:c.79T>C | NP_002403.2:p.Leu27= | |
NM_002412.4:c.79T>C | NP_002403.2:p.Leu27= | |
XM_005252682.2:c.-160T>C | XP_005252739.1:n.-160T>C | |
NM_002412.5:c.-15T>C MANE Select | NP_002403.3:n.-15T>C |