HGVS | Genome Assembly |
---|---|
NC_000009.12:g.97853897G>T , CM000671.2:g.97853897G>T | GRCh38 |
NC_000009.11:g.100616179G>T , CM000671.1:g.100616179G>T | GRCh37 |
NC_000009.10:g.99656000G>T | NCBI36 |
NG_011979.1:g.5643G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375123.5:c.-18G>T MANE Select | ENSP00000364265.3:n.-18G>T | |
ENST00000375123.4:c.-18G>T | ENSP00000364265.3:n.-18G>T | |
NM_004473.3:c.-18G>T | NP_004464.2:n.-18G>T | |
NM_004473.4:c.-18G>T MANE Select | NP_004464.2:n.-18G>T |