HGVS | Genome Assembly |
---|---|
NC_000004.12:g.121679344C>A , CM000666.2:g.121679344C>A | GRCh38 |
NC_000004.11:g.122600499C>A , CM000666.1:g.122600499C>A | GRCh37 |
NC_000004.10:g.122819949C>A | NCBI36 |
NG_032042.1:g.22649G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296511.10:c.395-850G>T MANE Select | ENSP00000296511.5:n.395-850G>T | |
ENST00000296511.9:c.395-850G>T | ENSP00000296511.5:n.395-850G>T | |
ENST00000501272.6:c.215-850G>T | ENSP00000424106.1:n.215-850G>T | |
ENST00000506395.5:c.395-850G>T | ENSP00000421421.1:n.395-850G>T | |
ENST00000509016.5:n.516-850G>T | ||
ENST00000511552.5:n.781-850G>T | ||
ENST00000515017.5:c.95-850G>T | ENSP00000424199.1:n.95-850G>T | |
NM_001154.3:c.395-850G>T | NP_001145.1:n.395-850G>T | |
NM_001154.4:c.395-850G>T MANE Select | NP_001145.1:n.395-850G>T |