HGVS | Genome Assembly |
---|---|
NC_000004.12:g.121696962C>T , CM000666.2:g.121696962C>T | GRCh38 |
NC_000004.11:g.122618117C>T , CM000666.1:g.122618117C>T | GRCh37 |
NC_000004.10:g.122837567C>T | NCBI36 |
NG_032042.1:g.5031G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296511.10:c.-135G>A MANE Select | ENSP00000296511.5:n.-135G>A | |
ENST00000296511.9:c.-135G>A | ENSP00000296511.5:n.-135G>A | |
ENST00000501272.6:c.-135G>A | ENSP00000424106.1:n.-135G>A | |
ENST00000506395.5:c.-135G>A | ENSP00000421421.1:n.-135G>A | |
ENST00000509016.5:n.31G>A | ||
ENST00000511552.5:n.14G>A | ||
ENST00000513428.5:n.31G>A | ||
ENST00000513523.1:n.34G>A | ||
ENST00000513728.1:c.-135G>A | ENSP00000427135.1:n.-135G>A | |
ENST00000515017.5:c.-135G>A | ENSP00000424199.1:n.-135G>A | |
NM_001154.3:c.-135G>A | NP_001145.1:n.-135G>A | |
XM_017008141.2:c.-135G>A | XP_016863630.1:n.-135G>A | |
NM_001154.4:c.-135G>A MANE Select | NP_001145.1:n.-135G>A |