HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133256085A= , CM000671.2:g.133256085A= | GRCh38 |
NC_000009.11:g.136131472A= , CM000671.1:g.136131472A= | GRCh37 |
NC_000009.10:g.135121293A= | NCBI36 |
NG_006669.1:g.21583T= | |
NG_006669.2:g.24131T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.675T= | ||
ENST00000647353.1:n.54-4933T= | ||
ENST00000679909.1:c.28+19077T= | ENSP00000506089.1:n.28+19077T= | |
ENST00000453660.3:n.657T= | ||
ENST00000538324.2:c.643T= | ENSP00000483018.1:p.Phe215= | |
ENST00000611156.4:c.643T= | ENSP00000483265.1:p.Phe215= | |
NM_020469.2:c.646T= | NP_065202.2:p.Phe216= | |
NM_020469.3:c.646T= | NP_065202.2:p.Phe216= |