HGVS | Genome Assembly |
---|---|
NC_000016.10:g.83914988T>G , CM000678.2:g.83914988T>G | GRCh38 |
NC_000016.9:g.83948593T>G , CM000678.1:g.83948593T>G | GRCh37 |
NC_000016.8:g.82506094T>G | NCBI36 |
NG_009079.1:g.20864T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262430.6:c.981T>G MANE Select | ENSP00000262430.4:p.Ser327Arg | |
ENST00000262430.5:c.981T>G | ENSP00000262430.4:p.Ser327Arg | |
ENST00000561562.5:c.301+2621T>G | ||
ENST00000563312.5:c.258+2621T>G | ENSP00000477143.1:n.258+2621T>G | |
ENST00000566309.2:c.258+2621T>G | ENSP00000476300.1:n.258+2621T>G | |
ENST00000569024.1:n.3306T>G | ||
NM_012213.2:c.981T>G | NP_036345.2:p.Ser327Arg | |
NM_012213.3:c.981T>G MANE Select | NP_036345.2:p.Ser327Arg |