HGVS | Genome Assembly |
---|---|
NC_000004.12:g.121696971C>T , CM000666.2:g.121696971C>T | GRCh38 |
NC_000004.11:g.122618126C>T , CM000666.1:g.122618126C>T | GRCh37 |
NC_000004.10:g.122837576C>T | NCBI36 |
NG_032042.1:g.5022G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000296511.10:c.-144G>A MANE Select | ENSP00000296511.5:n.-144G>A | |
ENST00000296511.9:c.-144G>A | ENSP00000296511.5:n.-144G>A | |
ENST00000509016.5:n.22G>A | ||
ENST00000511552.5:n.5G>A | ||
ENST00000513428.5:n.22G>A | ||
ENST00000513523.1:n.25G>A | ||
ENST00000513728.1:c.-144G>A | ENSP00000427135.1:n.-144G>A | |
NM_001154.3:c.-144G>A | NP_001145.1:n.-144G>A | |
XM_017008141.2:c.-144G>A | XP_016863630.1:n.-144G>A | |
NM_001154.4:c.-144G>A MANE Select | NP_001145.1:n.-144G>A |