HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255392C>T , CM000671.2:g.133255392C>T | GRCh38 |
NC_000009.11:g.136130779C>T , CM000671.1:g.136130779C>T | GRCh37 |
NC_000009.10:g.135120600C>T | NCBI36 |
NG_006669.1:g.22276G>A | |
NG_006669.2:g.24824G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.1368G>A | ||
ENST00000647353.1:n.54-4240G>A | ||
ENST00000679909.1:c.28+19770G>A | ENSP00000506089.1:n.28+19770G>A | |
ENST00000453660.3:n.1350G>A | ||
ENST00000611156.4:c.*274G>A | ENSP00000483265.1:n.*274G>A | |
NM_020469.2:c.*274G>A | NP_065202.2:n.*274G>A | |
NM_020469.3:c.*274G>A | NP_065202.2:n.*274G>A |