HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255939G= , CM000671.2:g.133255939G= | GRCh38 |
NC_000009.11:g.136131326G= , CM000671.1:g.136131326G= | GRCh37 |
NC_000009.10:g.135121147G= | NCBI36 |
NG_006669.1:g.21729C= | |
NG_006669.2:g.24277C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.821C= | ||
ENST00000647353.1:n.54-4787C= | ||
ENST00000679909.1:c.28+19223C= | ENSP00000506089.1:n.28+19223C= | |
ENST00000453660.3:n.803C= | ||
ENST00000538324.2:c.789C= | ENSP00000483018.1:p.Tyr263= | |
ENST00000611156.4:c.789C= | ENSP00000483265.1:p.Tyr263= | |
NM_020469.2:c.792C= | NP_065202.2:p.Tyr264= | |
NM_020469.3:c.792C= | NP_065202.2:p.Tyr264= |