HGVS | Genome Assembly |
---|---|
NC_000006.12:g.18122096C>T , CM000668.2:g.18122096C>T | GRCh38 |
NC_000006.11:g.18122327C>T , CM000668.1:g.18122327C>T | GRCh37 |
NC_000006.10:g.18230306C>T | NCBI36 |
NG_016750.1:g.5525G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000340650.6:c.511G>A MANE Select | ENSP00000345464.3:p.Ala171Thr | |
ENST00000340650.4:c.511G>A | ENSP00000345464.3:p.Ala171Thr | |
NM_198586.2:c.511G>A | NP_940988.2:p.Ala171Thr | |
NM_198586.3:c.511G>A MANE Select | NP_940988.2:p.Ala171Thr |