HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255906T= , CM000671.2:g.133255906T= | GRCh38 |
NC_000009.11:g.136131293T= , CM000671.1:g.136131293T= | GRCh37 |
NC_000009.10:g.135121114T= | NCBI36 |
NG_006669.1:g.21762A= | |
NG_006669.2:g.24310A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.854A= | ||
ENST00000647353.1:n.54-4754A= | ||
ENST00000679909.1:c.28+19256A= | ENSP00000506089.1:n.28+19256A= | |
ENST00000453660.3:n.836A= | ||
ENST00000538324.2:c.822A= | ENSP00000483018.1:p.Gln274= | |
ENST00000611156.4:c.822A= | ENSP00000483265.1:p.Gln274= | |
NM_020469.2:c.825A= | NP_065202.2:p.Gln275= | |
NM_020469.3:c.825A= | NP_065202.2:p.Gln275= |