HGVS | Genome Assembly |
---|---|
NC_000012.12:g.101830855C>A , CM000674.2:g.101830855C>A | GRCh38 |
NC_000012.11:g.102224633C>A , CM000674.1:g.102224633C>A | GRCh37 |
NC_000012.10:g.100748764C>A | NCBI36 |
NG_021243.1:g.5013G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299314.12:c.-180G>T MANE Select | ENSP00000299314.7:n.-180G>T | |
ENST00000299314.11:c.-180G>T | ENSP00000299314.7:n.-180G>T | |
NM_024312.4:c.-180G>T | NP_077288.2:n.-180G>T | |
XM_006719593.2:c.-180G>T | XP_006719656.1:n.-180G>T | |
NM_024312.5:c.-180G>T MANE Select | NP_077288.2:n.-180G>T |