HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133256196T= , CM000671.2:g.133256196T= | GRCh38 |
NC_000009.11:g.136131583T= , CM000671.1:g.136131583T= | GRCh37 |
NC_000009.10:g.135121404T= | NCBI36 |
NG_006669.1:g.21472A= | |
NG_006669.2:g.24020A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.564A= | ||
ENST00000647353.1:n.54-5044A= | ||
ENST00000651471.1:n.490A= | ||
ENST00000679909.1:c.28+18966A= | ENSP00000506089.1:n.28+18966A= | |
ENST00000453660.3:n.546A= | ||
ENST00000538324.2:c.532A= | ENSP00000483018.1:p.Lys178= | |
ENST00000611156.4:c.532A= | ENSP00000483265.1:p.Lys178= | |
NM_020469.2:c.535A= | NP_065202.2:p.Lys179= | |
NM_020469.3:c.535A= | NP_065202.2:p.Lys179= |