HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255479T>G , CM000671.2:g.133255479T>G | GRCh38 |
NC_000009.11:g.136130866T>G , CM000671.1:g.136130866T>G | GRCh37 |
NC_000009.10:g.135120687T>G | NCBI36 |
NG_006669.1:g.22189A>C | |
NG_006669.2:g.24737A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.1281A>C | ||
ENST00000647353.1:n.54-4327A>C | ||
ENST00000679909.1:c.28+19683A>C | ENSP00000506089.1:n.28+19683A>C | |
ENST00000453660.3:n.1263A>C | ||
ENST00000611156.4:c.*187A>C | ENSP00000483265.1:n.*187A>C | |
NM_020469.2:c.*187A>C | NP_065202.2:n.*187A>C | |
NM_020469.3:c.*187A>C | NP_065202.2:n.*187A>C |