HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951781T>C , CM000670.2:g.19951781T>C | GRCh38 |
NC_000008.10:g.19809292T>C , CM000670.1:g.19809292T>C | GRCh37 |
NC_000008.9:g.19853572T>C | NCBI36 |
NG_008855.1:g.17711T>C | |
NG_008855.2:g.55065T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.262T>C MANE Select | ENSP00000497642.1:p.Tyr88His | |
ENST00000311322.8:c.262T>C | ENSP00000309757.6:p.Tyr88His | |
ENST00000520959.5:c.34T>C | ENSP00000428496.1:p.Tyr12His | |
ENST00000521994.1:n.519T>C | ||
ENST00000522701.5:c.262T>C | ENSP00000428557.1:p.Tyr88His | |
ENST00000524029.5:c.262T>C | ENSP00000428237.1:p.Tyr88His | |
NM_000237.2:c.262T>C | NP_000228.1:p.Tyr88His | |
NM_000237.3:c.262T>C MANE Select | NP_000228.1:p.Tyr88His |