HGVS | Genome Assembly |
---|---|
NC_000019.10:g.9214398G>A , CM000681.2:g.9214398G>A | GRCh38 |
NC_000019.9:g.9325074G>A , CM000681.1:g.9325074G>A | GRCh37 |
NC_000019.8:g.9186074G>A | NCBI36 |
NG_027953.1:g.5474C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000641244.1:c.440C>T | ENSP00000493404.1:p.Ala147Val | |
ENST00000641669.1:c.440C>T MANE Select | ENSP00000493383.1:p.Ala147Val | |
ENST00000308682.3:c.440C>T | ENSP00000310488.2:p.Ala147Val | |
NM_001005191.2:c.440C>T | NP_001005191.1:p.Ala147Val | |
NM_001005191.3:c.440C>T MANE Select | NP_001005191.1:p.Ala147Val |