HGVS | Genome Assembly |
---|---|
NC_000009.12:g.97853993G>A , CM000671.2:g.97853993G>A | GRCh38 |
NC_000009.11:g.100616275G>A , CM000671.1:g.100616275G>A | GRCh37 |
NC_000009.10:g.99656096G>A | NCBI36 |
NG_011979.1:g.5739G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375123.5:c.79G>A MANE Select | ENSP00000364265.3:p.Ala27Thr | |
ENST00000375123.4:c.79G>A | ENSP00000364265.3:p.Ala27Thr | |
NM_004473.3:c.79G>A | NP_004464.2:p.Ala27Thr | |
NM_004473.4:c.79G>A MANE Select | NP_004464.2:p.Ala27Thr |