HGVS | Genome Assembly |
---|---|
NC_000006.12:g.18130726T>A , CM000668.2:g.18130726T>A | GRCh38 |
NC_000006.11:g.18130957T>A , CM000668.1:g.18130957T>A | GRCh37 |
NC_000006.10:g.18238936T>A | NCBI36 |
NG_012137.2:g.29418A>T | |
NG_012137.3:g.29418A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309983.5:c.680A>T MANE Select | ENSP00000312304.4:p.His227Leu | |
ENST00000309983.4:c.680A>T | ENSP00000312304.4:p.His227Leu | |
NM_000367.3:c.680A>T | NP_000358.1:p.His227Leu | |
XM_011514839.1:c.635A>T | XP_011513141.1:p.His212Leu | |
XM_011514840.1:c.611A>T | XP_011513142.1:p.His204Leu | |
NM_000367.4:c.680A>T | NP_000358.1:p.His227Leu | |
NM_001346817.1:c.680A>T | NP_001333746.1:p.His227Leu | |
NM_001346818.1:c.635A>T | NP_001333747.1:p.His212Leu | |
NM_000367.5:c.680A>T MANE Select | NP_000358.1:p.His227Leu |