HGVS | Genome Assembly |
---|---|
NC_000012.12:g.101830847G>T , CM000674.2:g.101830847G>T | GRCh38 |
NC_000012.11:g.102224625G>T , CM000674.1:g.102224625G>T | GRCh37 |
NC_000012.10:g.100748756G>T | NCBI36 |
NG_021243.1:g.5021C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299314.12:c.-172C>A MANE Select | ENSP00000299314.7:n.-172C>A | |
ENST00000299314.11:c.-172C>A | ENSP00000299314.7:n.-172C>A | |
NM_024312.4:c.-172C>A | NP_077288.2:n.-172C>A | |
XM_006719593.2:c.-172C>A | XP_006719656.1:n.-172C>A | |
NM_024312.5:c.-172C>A MANE Select | NP_077288.2:n.-172C>A |