HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215867055C>A , CM000663.2:g.215867055C>A | GRCh38 |
NC_000001.10:g.216040397C>A , CM000663.1:g.216040397C>A | GRCh37 |
NC_000001.9:g.214107020C>A | NCBI36 |
NG_009497.1:g.561342G>T | |
NG_009497.2:g.561394G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.8797G>T MANE Select | ENSP00000305941.3:p.Ala2933Ser | |
ENST00000674083.1:c.8797G>T | ENSP00000501296.1:p.Ala2933Ser | |
ENST00000307340.7:c.8797G>T | ENSP00000305941.3:p.Ala2933Ser | |
NM_206933.2:c.8797G>T | NP_996816.2:p.Ala2933Ser | |
NM_206933.3:c.8797G>T | NP_996816.2:p.Ala2933Ser | |
NM_206933.4:c.8797G>T MANE Select | NP_996816.3:p.Ala2933Ser |