HGVS | Genome Assembly |
---|---|
NC_000006.12:g.160736890C>T , CM000668.2:g.160736890C>T | GRCh38 |
NC_000006.11:g.161157922C>T , CM000668.1:g.161157922C>T | GRCh37 |
NC_000006.10:g.161077912C>T | NCBI36 |
NG_016200.1:g.39698C>T , LRG_571:g.39698C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297289.9:c.638C>T | ENSP00000516619.1:p.Ala213Val | |
ENST00000418964.2:c.1736C>T | ENSP00000389424.2:p.Ala579Val | |
ENST00000706906.1:c.*1705C>T | ENSP00000516618.1:n.*1705C>T | |
ENST00000308192.14:c.1685C>T MANE Select | ENSP00000308938.9:p.Ala562Val | |
ENST00000308192.13:c.1685C>T | ENSP00000308938.9:p.Ala562Val | |
NM_000301.3:c.1685C>T , LRG_571t1:c.1685C>T | NP_000292.1:p.Ala562Val | |
NM_000301.4:c.1685C>T | NP_000292.1:p.Ala562Val | |
NM_000301.5:c.1685C>T MANE Select | NP_000292.1:p.Ala562Val |