HGVS | Genome Assembly |
---|---|
NC_000006.12:g.160736893C>G , CM000668.2:g.160736893C>G | GRCh38 |
NC_000006.11:g.161157925C>G , CM000668.1:g.161157925C>G | GRCh37 |
NC_000006.10:g.161077915C>G | NCBI36 |
NG_016200.1:g.39701C>G , LRG_571:g.39701C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297289.9:c.641C>G | ENSP00000516619.1:p.Pro214Arg | |
ENST00000418964.2:c.1739C>G | ENSP00000389424.2:p.Pro580Arg | |
ENST00000706906.1:c.*1708C>G | ENSP00000516618.1:n.*1708C>G | |
ENST00000308192.14:c.1688C>G MANE Select | ENSP00000308938.9:p.Pro563Arg | |
ENST00000308192.13:c.1688C>G | ENSP00000308938.9:p.Pro563Arg | |
NM_000301.3:c.1688C>G , LRG_571t1:c.1688C>G | NP_000292.1:p.Pro563Arg | |
NM_000301.4:c.1688C>G | NP_000292.1:p.Pro563Arg | |
NM_000301.5:c.1688C>G MANE Select | NP_000292.1:p.Pro563Arg |