HGVS | Genome Assembly |
---|---|
NC_000012.12:g.110914253C>T , CM000674.2:g.110914253C>T | GRCh38 |
NC_000012.11:g.111352057C>T , CM000674.1:g.111352057C>T | GRCh37 |
NC_000012.10:g.109836440C>T | NCBI36 |
NG_007554.1:g.11325G>A , LRG_393:g.11325G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000228841.15:c.207G>A MANE Select | ENSP00000228841.8:p.Met69Ile | |
ENST00000663220.1:c.150G>A | ENSP00000499568.1:p.Met50Ile | |
ENST00000228841.12:c.207G>A | ENSP00000228841.7:p.Met69Ile | |
ENST00000548438.1:c.165G>A | ENSP00000447154.1:p.Met55Ile | |
ENST00000549029.1:n.38G>A | ||
NM_000432.3:c.207G>A , LRG_393t1:c.207G>A | NP_000423.2:p.Met69Ile | |
NM_000432.4:c.207G>A MANE Select | NP_000423.2:p.Met69Ile |