HGVS | Genome Assembly |
---|---|
NC_000006.12:g.160736889G>A , CM000668.2:g.160736889G>A | GRCh38 |
NC_000006.11:g.161157921G>A , CM000668.1:g.161157921G>A | GRCh37 |
NC_000006.10:g.161077911G>A | NCBI36 |
NG_016200.1:g.39697G>A , LRG_571:g.39697G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297289.9:c.637G>A | ENSP00000516619.1:p.Ala213Thr | |
ENST00000418964.2:c.1735G>A | ENSP00000389424.2:p.Ala579Thr | |
ENST00000706906.1:c.*1704G>A | ENSP00000516618.1:n.*1704G>A | |
ENST00000308192.14:c.1684G>A MANE Select | ENSP00000308938.9:p.Ala562Thr | |
ENST00000308192.13:c.1684G>A | ENSP00000308938.9:p.Ala562Thr | |
NM_000301.3:c.1684G>A , LRG_571t1:c.1684G>A | NP_000292.1:p.Ala562Thr | |
NM_000301.4:c.1684G>A | NP_000292.1:p.Ala562Thr | |
NM_000301.5:c.1684G>A MANE Select | NP_000292.1:p.Ala562Thr |