HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255629G>A , CM000671.2:g.133255629G>A | GRCh38 |
NC_000009.11:g.136131016G>A , CM000671.1:g.136131016G>A | GRCh37 |
NC_000009.10:g.135120837G>A | NCBI36 |
NG_006669.1:g.22039C>T | |
NG_006669.2:g.24587C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.1131C>T | ||
ENST00000647353.1:n.54-4477C>T | ||
ENST00000679909.1:c.28+19533C>T | ENSP00000506089.1:n.28+19533C>T | |
ENST00000453660.3:n.1113C>T | ||
ENST00000538324.2:c.1095C>T | ENSP00000483018.1:p.Ala365= | |
ENST00000611156.4:c.*37C>T | ENSP00000483265.1:n.*37C>T | |
NM_020469.2:c.*37C>T | NP_065202.2:n.*37C>T | |
NM_020469.3:c.*37C>T | NP_065202.2:n.*37C>T |