HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255843G>T , CM000671.2:g.133255843G>T | GRCh38 |
NC_000009.11:g.136131230G>T , CM000671.1:g.136131230G>T | GRCh37 |
NC_000009.10:g.135121051G>T | NCBI36 |
NG_006669.1:g.21825C>A | |
NG_006669.2:g.24373C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.917C>A | ||
ENST00000647353.1:n.54-4691C>A | ||
ENST00000679909.1:c.28+19319C>A | ENSP00000506089.1:n.28+19319C>A | |
ENST00000453660.3:n.899C>A | ||
ENST00000538324.2:c.885C>A | ENSP00000483018.1:p.Ile295= | |
ENST00000611156.4:c.885C>A | ENSP00000483265.1:p.Ile295= | |
NM_020469.2:c.888C>A | NP_065202.2:p.Ile296= | |
NM_020469.3:c.888C>A | NP_065202.2:p.Ile296= |