HGVS | Genome Assembly |
---|---|
NC_000004.12:g.121679434A>C , CM000666.2:g.121679434A>C | GRCh38 |
NC_000004.11:g.122600589A>C , CM000666.1:g.122600589A>C | GRCh37 |
NC_000004.10:g.122820039A>C | NCBI36 |
NG_032042.1:g.22559T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296511.10:c.395-940T>G MANE Select | ENSP00000296511.5:n.395-940T>G | |
ENST00000296511.9:c.395-940T>G | ENSP00000296511.5:n.395-940T>G | |
ENST00000501272.6:c.215-940T>G | ENSP00000424106.1:n.215-940T>G | |
ENST00000506395.5:c.395-940T>G | ENSP00000421421.1:n.395-940T>G | |
ENST00000509016.5:n.516-940T>G | ||
ENST00000511552.5:n.781-940T>G | ||
ENST00000515017.5:c.95-940T>G | ENSP00000424199.1:n.95-940T>G | |
NM_001154.3:c.395-940T>G | NP_001145.1:n.395-940T>G | |
NM_001154.4:c.395-940T>G MANE Select | NP_001145.1:n.395-940T>G |