HGVS | Genome Assembly |
---|---|
NC_000006.12:g.160736888G>A , CM000668.2:g.160736888G>A | GRCh38 |
NC_000006.11:g.161157920G>A , CM000668.1:g.161157920G>A | GRCh37 |
NC_000006.10:g.161077910G>A | NCBI36 |
NG_016200.1:g.39696G>A , LRG_571:g.39696G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297289.9:c.636G>A | ENSP00000516619.1:p.Ala212= | |
ENST00000418964.2:c.1734G>A | ENSP00000389424.2:p.Ala578= | |
ENST00000706906.1:c.*1703G>A | ENSP00000516618.1:n.*1703G>A | |
ENST00000308192.14:c.1683G>A MANE Select | ENSP00000308938.9:p.Ala561= | |
ENST00000308192.13:c.1683G>A | ENSP00000308938.9:p.Ala561= | |
NM_000301.3:c.1683G>A , LRG_571t1:c.1683G>A | NP_000292.1:p.Ala561= | |
NM_000301.4:c.1683G>A | NP_000292.1:p.Ala561= | |
NM_000301.5:c.1683G>A MANE Select | NP_000292.1:p.Ala561= |