HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255410G>T , CM000671.2:g.133255410G>T | GRCh38 |
NC_000009.11:g.136130797G>T , CM000671.1:g.136130797G>T | GRCh37 |
NC_000009.10:g.135120618G>T | NCBI36 |
NG_006669.1:g.22258C>A | |
NG_006669.2:g.24806C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.1350C>A | ||
ENST00000647353.1:n.54-4258C>A | ||
ENST00000679909.1:c.28+19752C>A | ENSP00000506089.1:n.28+19752C>A | |
ENST00000453660.3:n.1332C>A | ||
ENST00000611156.4:c.*256C>A | ENSP00000483265.1:n.*256C>A | |
NM_020469.2:c.*256C>A | NP_065202.2:n.*256C>A | |
NM_020469.3:c.*256C>A | NP_065202.2:n.*256C>A |