HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255717C= , CM000671.2:g.133255717C= | GRCh38 |
NC_000009.11:g.136131104C= , CM000671.1:g.136131104C= | GRCh37 |
NC_000009.10:g.135120925C= | NCBI36 |
NG_006669.1:g.21951G= | |
NG_006669.2:g.24499G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.1043G= | ||
ENST00000647353.1:n.54-4565G= | ||
ENST00000679909.1:c.28+19445G= | ENSP00000506089.1:n.28+19445G= | |
ENST00000453660.3:n.1025G= | ||
ENST00000538324.2:c.1011G= | ENSP00000483018.1:p.Lys337= | |
ENST00000611156.4:c.1011G= | ENSP00000483265.1:p.Lys337= | |
NM_020469.2:c.1014G= | NP_065202.2:p.Lys338= | |
NM_020469.3:c.1014G= | NP_065202.2:p.Lys338= |