HGVS | Genome Assembly |
---|---|
NC_000004.12:g.121693619A>G , CM000666.2:g.121693619A>G | GRCh38 |
NC_000004.11:g.122614774A>G , CM000666.1:g.122614774A>G | GRCh37 |
NC_000004.10:g.122834224A>G | NCBI36 |
NG_032042.1:g.8374T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296511.10:c.9+2962T>C MANE Select | ENSP00000296511.5:n.9+2962T>C | |
ENST00000296511.9:c.9+2962T>C | ENSP00000296511.5:n.9+2962T>C | |
ENST00000501272.6:c.9+2962T>C | ENSP00000424106.1:n.9+2962T>C | |
ENST00000506395.5:c.9+2962T>C | ENSP00000421421.1:n.9+2962T>C | |
ENST00000509016.5:n.130+3244T>C | ||
ENST00000511552.5:n.395+2962T>C | ||
ENST00000513428.5:n.174+2962T>C | ||
ENST00000513523.1:n.177+2962T>C | ||
ENST00000513728.1:c.9+2962T>C | ENSP00000427135.1:n.9+2962T>C | |
ENST00000515017.5:c.9+2962T>C | ENSP00000424199.1:n.9+2962T>C | |
NM_001154.3:c.9+2962T>C | NP_001145.1:n.9+2962T>C | |
XM_017008141.2:c.9+2962T>C | XP_016863630.1:n.9+2962T>C | |
NM_001154.4:c.9+2962T>C MANE Select | NP_001145.1:n.9+2962T>C |