HGVS | Genome Assembly |
---|---|
NC_000004.12:g.121685928G>T , CM000666.2:g.121685928G>T | GRCh38 |
NC_000004.11:g.122607083G>T , CM000666.1:g.122607083G>T | GRCh37 |
NC_000004.10:g.122826533G>T | NCBI36 |
NG_032042.1:g.16065C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296511.10:c.94+360C>A MANE Select | ENSP00000296511.5:n.94+360C>A | |
ENST00000296511.9:c.94+360C>A | ENSP00000296511.5:n.94+360C>A | |
ENST00000501272.6:c.10-2451C>A | ENSP00000424106.1:n.10-2451C>A | |
ENST00000506395.5:c.94+360C>A | ENSP00000421421.1:n.94+360C>A | |
ENST00000509016.5:n.215+360C>A | ||
ENST00000511552.5:n.480+360C>A | ||
ENST00000513428.5:n.259+360C>A | ||
ENST00000513523.1:n.262+360C>A | ||
ENST00000513728.1:c.94+360C>A | ENSP00000427135.1:n.94+360C>A | |
ENST00000515017.5:c.94+360C>A | ENSP00000424199.1:n.94+360C>A | |
NM_001154.3:c.94+360C>A | NP_001145.1:n.94+360C>A | |
XM_017008141.2:c.94+360C>A | XP_016863630.1:n.94+360C>A | |
NM_001154.4:c.94+360C>A MANE Select | NP_001145.1:n.94+360C>A |