HGVS | Genome Assembly |
---|---|
NC_000019.10:g.9214491G>T , CM000681.2:g.9214491G>T | GRCh38 |
NC_000019.9:g.9325167G>T , CM000681.1:g.9325167G>T | GRCh37 |
NC_000019.8:g.9186167G>T | NCBI36 |
NG_027953.1:g.5381C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000641244.1:c.347C>A | ENSP00000493404.1:p.Ala116Asp | |
ENST00000641669.1:c.347C>A MANE Select | ENSP00000493383.1:p.Ala116Asp | |
ENST00000308682.3:c.347C>A | ENSP00000310488.2:p.Ala116Asp | |
NM_001005191.2:c.347C>A | NP_001005191.1:p.Ala116Asp | |
NM_001005191.3:c.347C>A MANE Select | NP_001005191.1:p.Ala116Asp |