HGVS | Genome Assembly |
---|---|
NC_000006.12:g.18122094G>T , CM000668.2:g.18122094G>T | GRCh38 |
NC_000006.11:g.18122325G>T , CM000668.1:g.18122325G>T | GRCh37 |
NC_000006.10:g.18230304G>T | NCBI36 |
NG_016750.1:g.5527C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000340650.6:c.513C>A MANE Select | ENSP00000345464.3:p.Ala171= | |
ENST00000340650.4:c.513C>A | ENSP00000345464.3:p.Ala171= | |
NM_198586.2:c.513C>A | NP_940988.2:p.Ala171= | |
NM_198586.3:c.513C>A MANE Select | NP_940988.2:p.Ala171= |