HGVS | Genome Assembly |
---|---|
NC_000004.12:g.121679492C>T , CM000666.2:g.121679492C>T | GRCh38 |
NC_000004.11:g.122600647C>T , CM000666.1:g.122600647C>T | GRCh37 |
NC_000004.10:g.122820097C>T | NCBI36 |
NG_032042.1:g.22501G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296511.10:c.395-998G>A MANE Select | ENSP00000296511.5:n.395-998G>A | |
ENST00000296511.9:c.395-998G>A | ENSP00000296511.5:n.395-998G>A | |
ENST00000501272.6:c.215-998G>A | ENSP00000424106.1:n.215-998G>A | |
ENST00000506395.5:c.395-998G>A | ENSP00000421421.1:n.395-998G>A | |
ENST00000509016.5:n.516-998G>A | ||
ENST00000511552.5:n.781-998G>A | ||
ENST00000515017.5:c.95-998G>A | ENSP00000424199.1:n.95-998G>A | |
NM_001154.3:c.395-998G>A | NP_001145.1:n.395-998G>A | |
NM_001154.4:c.395-998G>A MANE Select | NP_001145.1:n.395-998G>A |