HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133261628C>A , CM000671.2:g.133261628C>A | GRCh38 |
NC_000009.11:g.136137031C>A , CM000671.1:g.136137031C>A | GRCh37 |
NC_000009.10:g.135126852C>A | NCBI36 |
NG_006669.1:g.16022G>T | |
NG_006669.2:g.18587G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.129-254G>T | ||
ENST00000647353.1:n.54-10476G>T | ||
ENST00000651471.1:n.134-254G>T | ||
ENST00000679909.1:c.28+13534G>T | ENSP00000506089.1:n.28+13534G>T | |
ENST00000453660.3:n.111-254G>T | ||
ENST00000538324.2:c.99-254G>T | ENSP00000483018.1:n.99-254G>T | |
ENST00000611156.4:c.99-254G>T | ENSP00000483265.1:n.99-254G>T | |
NM_020469.2:c.99-254G>T | NP_065202.2:n.99-254G>T | |
NM_020469.3:c.99-254G>T | NP_065202.2:n.99-254G>T |