HGVS | Genome Assembly |
---|---|
NC_000004.12:g.121696974C>A , CM000666.2:g.121696974C>A | GRCh38 |
NC_000004.11:g.122618129C>A , CM000666.1:g.122618129C>A | GRCh37 |
NC_000004.10:g.122837579C>A | NCBI36 |
NG_032042.1:g.5019G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000296511.10:c.-147G>T MANE Select | ENSP00000296511.5:n.-147G>T | |
ENST00000296511.9:c.-147G>T | ENSP00000296511.5:n.-147G>T | |
ENST00000509016.5:n.19G>T | ||
ENST00000511552.5:n.2G>T | ||
ENST00000513428.5:n.19G>T | ||
ENST00000513523.1:n.22G>T | ||
ENST00000513728.1:c.-147G>T | ENSP00000427135.1:n.-147G>T | |
NM_001154.3:c.-147G>T | NP_001145.1:n.-147G>T | |
XM_017008141.2:c.-147G>T | XP_016863630.1:n.-147G>T | |
NM_001154.4:c.-147G>T MANE Select | NP_001145.1:n.-147G>T |